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profileRichard Louis Maas, M.D.,Ph.D.

TitleProfessor of Medicine
InstitutionBrigham and Women's Hospital
DepartmentMedicine
AddressBrigham and Women's Hospital
N R B 0458 H
77 Avenue Louis Pasteur
Boston MA 02115
Phone617/525-4704
Fax617/525-4751
vCardDownload vCard (login for email)

Collapse Mentoring 
Collapse completed student projects
Identifying Pathogenic Tissue Types and Genes in Rheumatoid Arthritis and Human Diseases Using GWAS-Implicated SNPs and Gene Expression Data
Summer, 01/04/10 - 05/30/12
Eyetracking Studies of Integrative Deficits in Autism
Summer, 06/01/06 - 08/31/06
Role of Piezo2 in zebrafish muscle and craniofacial development
Summer, 05/11/15 - 09/30/15
Proteomic Analysis of the Extracellular Matrix Components of Murine Tooth Germs
Summer, 06/16/08 - 08/14/08
Identification of Dental Stem Cells
Summer, 06/23/08 - 08/08/08

Collapse Research 
Collapse research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
U01DE024443     (MAAS, RICHARD L)Aug 15, 2014 - Apr 30, 2019
NIH/NIDCR
Rapid Identification and Validation of Human Craniofacial Development Genes
Role: Principal Investigator

S10RR025697     (MAAS, RICHARD L)Mar 27, 2009 - Feb 28, 2010
NIH/NCRR
High Throughput Genome Sequencer for Organ Building
Role: Principal Investigator

R01HD060050     (MAAS, RICHARD L)Feb 5, 2009 - Jan 31, 2014
NIH/NICHD
Discovering Human Birth Defect Genes from Chromosomal Rearrangements
Role: Principal Investigator

RL1DE019021     (MAAS, RICHARD L)Sep 28, 2007 - Dec 30, 2012
NIH/NIDCR
SysCODE: Tooth Germ Design and Engineering (2 of 10)
Role: Principal Investigator

UL1DE019581     (MAAS, RICHARD L)Sep 20, 2007 - Jun 30, 2012
NIH/NIDCR
SysCODE: Systems-based Consortium for Organ Design and Engineering Leadership Mo
Role: Principal Investigator

Collapse Bibliographic 
Collapse selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
List All   |   Timeline
  1. Choi JK, El Assal R, Ng N, Ginsburg E, Maas RL, Anchan RM, Demirci U. Bio-inspired solute enables preservation of human oocytes using minimum volume vitrification. J Tissue Eng Regen Med. 2017 May 08. PMID: 28481448.
    View in: PubMed
  2. Lipskind S, Lindsey JS, Gerami-Naini B, Eaton JL, O'Connell D, Kiezun A, Ho JWK, Ng N, Parasar P, Ng M, Nickerson M, Demirci U, Maas R, Anchan RM. An Embryonic and Induced Pluripotent Stem Cell Model for Ovarian Granulosa Cell Development and Steroidogenesis. Reprod Sci. 2017 Jan 01; 1933719117725814. PMID: 28854867.
    View in: PubMed
  3. Lin H, Ouyang H, Zhu J, Huang S, Liu Z, Chen S, Cao G, Li G, Signer RA, Xu Y, Chung C, Zhang Y, Lin D, Patel S, Wu F, Cai H, Hou J, Wen C, Jafari M, Liu X, Luo L, Zhu J, Qiu A, Hou R, Chen B, Chen J, Granet D, Heichel C, Shang F, Li X, Krawczyk M, Skowronska-Krawczyk D, Wang Y, Shi W, Chen D, Zhong Z, Zhong S, Zhang L, Chen S, Morrison SJ, Maas RL, Zhang K, Liu Y. Corrigendum: Lens regeneration using endogenous stem cells with gain of visual function. Nature. 2017 01 26; 541(7638):558. PMID: 27919080.
    View in: PubMed
  4. Rasouly HM, Kumar S, Chan S, Pisarek-Horowitz A, Sharma R, Xi QJ, Nishizaki Y, Higashi Y, Salant DJ, Maas RL, Lu W. Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease. Kidney Int. 2016 Dec; 90(6):1262-1273. PMID: 27591083.
    View in: PubMed
  5. Brinkley JF, Fisher S, Harris MP, Holmes G, Hooper JE, Jabs EW, Jones KL, Kesselman C, Klein OD, Maas RL, Marazita ML, Selleri L, Spritz RA, van Bakel H, Visel A, Williams TJ, Wysocka J, Chai Y. The FaceBase Consortium: a comprehensive resource for craniofacial researchers. Development. 2016 Jul 15; 143(14):2677-88. PMID: 27287806; PMCID: PMC4958338.
  6. Rebustini IT, Vlahos M, Packer T, Kukuruzinska MA, Maas RL. An integrated miRNA functional screening and target validation method for organ morphogenesis. Sci Rep. 2016 Mar 16; 6:23215. PMID: 26980315; PMCID: PMC4793243.
  7. Lin H, Ouyang H, Zhu J, Huang S, Liu Z, Chen S, Cao G, Li G, Signer RA, Xu Y, Chung C, Zhang Y, Lin D, Patel S, Wu F, Cai H, Hou J, Wen C, Jafari M, Liu X, Luo L, Zhu J, Qiu A, Hou R, Chen B, Chen J, Granet D, Heichel C, Shang F, Li X, Krawczyk M, Skowronska-Krawczyk D, Wang Y, Shi W, Chen D, Zhong Z, Zhong S, Zhang L, Chen S, Morrison SJ, Maas RL, Zhang K, Liu Y. Lens regeneration using endogenous stem cells with gain of visual function. Nature. 2016 Mar 17; 531(7594):323-8. PMID: 26958831.
    View in: PubMed
  8. Mukherjee K, Ishii K, Pillalamarri V, Kammin T, Atkin JF, Hickey SE, Xi QJ, Zepeda CJ, Gusella JF, Talkowski ME, Morton CC, Maas RL, Liao EC. Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†. Hum Mol Genet. 2016 Apr 01; 25(7):1255-70. PMID: 26758871; PMCID: PMC4787901 [Available on 04/01/17].
  9. Zhang Y, Fan J, Ho JW, Hu T, Kneeland SC, Fan X, Xi Q, Sellarole MA, de Vries WN, Lu W, Lachke SA, Lang RA, John SW, Maas RL. Crim1 regulates integrin signaling in murine lens development. Development. 2016 Jan 15; 143(2):356-66. PMID: 26681494; PMCID: PMC4725338.
  10. Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL, Vuzman D. An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood. Rheumatology (Oxford). 2016 Mar; 55(3):586-9. PMID: 26493744; PMCID: PMC5009447 [Available on 03/01/17].
  11. Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K, Alkuraya FS. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. Am J Hum Genet. 2015 Oct 01; 97(4):608-15. PMID: 26365341; PMCID: PMC4596891.
  12. Li G, Xu F, Zhu J, Krawczyk M, Zhang Y, Yuan J, Patel S, Wang Y, Lin Y, Zhang M, Cai H, Chen D, Zhang M, Cao G, Yeh E, Lin D, Su Q, Li WW, Sen GL, Afshari N, Chen S, Maas RL, Fu XD, Zhang K, Liu Y, Ouyang H. Transcription Factor PAX6 (Paired Box 6) Controls Limbal Stem Cell Lineage in Development and Disease. J Biol Chem. 2015 Aug 14; 290(33):20448-54. PMID: 26045558; PMCID: PMC4536450.
  13. Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Mol Genet Genomic Med. 2015 Sep; 3(5):413-23. PMID: 26436107; PMCID: PMC4585449.
  14. Anchan R, Gerami-Naini B, Lindsey JS, Ho JW, Kiezun A, Lipskind S, Ng N, LiCausi JA, Kim CS, Brezina P, Tuschl T, Maas R, Kearns WG, Williams Z. Efficient differentiation of steroidogenic and germ-like cells from epigenetically-related iPSCs derived from ovarian granulosa cells. PLoS One. 2015; 10(3):e0119275. PMID: 25751620; PMCID: PMC4353623.
  15. Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet. 2015 Apr 15; 24(8):2375-89. PMID: 25574029; PMCID: PMC4380077.
  16. Li CC, Kharaziha M, Min C, Maas R, Nikkhah M. Microfabrication of Cell-Laden Hydrogels for Engineering Mineralized and Load Bearing Tissues. Adv Exp Med Biol. 2015; 881:15-31. PMID: 26545742.
    View in: PubMed
  17. Anchan RM, Lachke SA, Gerami-Naini B, Lindsey J, Ng N, Naber C, Nickerson M, Cavallesco R, Rowan S, Eaton JL, Xi Q, Maas RL. Pax6- and Six3-mediated induction of lens cell fate in mouse and human ES cells. PLoS One. 2014; 9(12):e115106. PMID: 25517354; PMCID: PMC4269389.
  18. Gfrerer L, Shubinets V, Hoyos T, Kong Y, Nguyen C, Pietschmann P, Morton CC, Maas RL, Liao EC. Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis. Plast Reconstr Surg. 2014 Oct; 134(4):748-59. PMID: 25357034; PMCID: PMC4430087.
  19. Gfrerer L, Shubinets V, Nguyen C, Morton CC, Maas RL, Liao EC. Abstract 14: requirement of specc1lb in facial prominence integration and formation of the lower jaw. Plast Reconstr Surg. 2014 Mar; 133(3 Suppl):24. PMID: 25942125.
    View in: PubMed
  20. Campàs O, Mammoto T, Hasso S, Sperling RA, O'Connell D, Bischof AG, Maas R, Weitz DA, Mahadevan L, Ingber DE. Quantifying cell-generated mechanical forces within living embryonic tissues. Nat Methods. 2014 Feb; 11(2):183-9. PMID: 24317254; PMCID: PMC3939080.
  21. Tasoglu S, Safaee H, Zhang X, Kingsley JL, Catalano PN, Gurkan UA, Nureddin A, Kayaalp E, Anchan RM, Maas RL, Tüzel E, Demirci U. Exhaustion of racing sperm in nature-mimicking microfluidic channels during sorting. Small. 2013 Oct 25; 9(20):3374-84. PMID: 23677651; PMCID: PMC3821799.
  22. Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A. 2013 Mar 19; 110(12):4667-72. PMID: 23487782; PMCID: PMC3607045.
  23. Arbab M, Mahony S, Cho H, Chick JM, Rolfe PA, van Hoff JP, Morris VW, Gygi SP, Maas RL, Gifford DK, Sherwood RI. A multi-parametric flow cytometric assay to analyze DNA-protein interactions. Nucleic Acids Res. 2013 Jan; 41(2):e38. PMID: 23143268; PMCID: PMC3554230.
  24. Nusinow DP, Kiezun A, O'Connell DJ, Chick JM, Yue Y, Maas RL, Gygi SP, Sunyaev SR. Network-based inference from complex proteomic mixtures using SNIPE. Bioinformatics. 2012 Dec 01; 28(23):3115-22. PMID: 23060611; PMCID: PMC3509492.
  25. Jumlongras D, Lachke SA, O'Connell DJ, Aboukhalil A, Li X, Choe SE, Ho JW, Turbe-Doan A, Robertson EA, Olsen BR, Bulyk ML, Amendt BA, Maas RL. An evolutionarily conserved enhancer regulates Bmp4 expression in developing incisor and limb bud. PLoS One. 2012; 7(6):e38568. PMID: 22701669; PMCID: PMC3373496.
  26. Lachke SA, Ho JW, Kryukov GV, O'Connell DJ, Aboukhalil A, Bulyk ML, Park PJ, Maas RL. iSyTE: integrated Systems Tool for Eye gene discovery. Invest Ophthalmol Vis Sci. 2012 Mar; 53(3):1617-27. PMID: 22323457; PMCID: PMC3339920.
  27. O'Connell DJ, Ho JW, Mammoto T, Turbe-Doan A, O'Connell JT, Haseley PS, Koo S, Kamiya N, Ingber DE, Park PJ, Maas RL. A Wnt-bmp feedback circuit controls intertissue signaling dynamics in tooth organogenesis. Sci Signal. 2012 Jan 10; 5(206):ra4. PMID: 22234613.
    View in: PubMed
  28. Zhang X, Khimji I, Shao L, Safaee H, Desai K, Keles HO, Gurkan UA, Kayaalp E, Nureddin A, Anchan RM, Maas RL, Demirci U. Nanoliter droplet vitrification for oocyte cryopreservation. Nanomedicine (Lond). 2012 Apr; 7(4):553-64. PMID: 22188180; PMCID: PMC3319864.
  29. Lachke SA, Maas RL. RNA Granules and Cataract. Expert Rev Ophthalmol. 2011 Oct 01; 6(5):497-500. PMID: 23847690.
    View in: PubMed
  30. Kasaikina MV, Fomenko DE, Labunskyy VM, Lachke SA, Qiu W, Moncaster JA, Zhang J, Wojnarowicz MW, Natarajan SK, Malinouski M, Schweizer U, Tsuji PA, Carlson BA, Maas RL, Lou MF, Goldstein LE, Hatfield DL, Gladyshev VN. Roles of the 15-kDa selenoprotein (Sep15) in redox homeostasis and cataract development revealed by the analysis of Sep 15 knockout mice. J Biol Chem. 2011 Sep 23; 286(38):33203-12. PMID: 21768092; PMCID: PMC3190948.
  31. Lachke SA, Higgins AW, Inagaki M, Saadi I, Xi Q, Long M, Quade BJ, Talkowski ME, Gusella JF, Fujimoto A, Robinson ML, Yang Y, Duong QT, Shapira I, Motro B, Miyoshi J, Takai Y, Morton CC, Maas RL. The cell adhesion gene PVRL3 is associated with congenital ocular defects. Hum Genet. 2012 Feb; 131(2):235-50. PMID: 21769484; PMCID: PMC3279124.
  32. Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. Am J Hum Genet. 2011 Jul 15; 89(1):44-55. PMID: 21703590; PMCID: PMC3135813.
  33. Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL. Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science. 2011 Mar 25; 331(6024):1571-6. PMID: 21436445; PMCID: PMC3279122.
  34. Anchan RM, Quaas P, Gerami-Naini B, Bartake H, Griffin A, Zhou Y, Day D, Eaton JL, George LL, Naber C, Turbe-Doan A, Park PJ, Hornstein MD, Maas RL. Amniocytes can serve a dual function as a source of iPS cells and feeder layers. Hum Mol Genet. 2011 Mar 01; 20(5):962-74. PMID: 21156717; PMCID: PMC3033187.
  35. Lachke SA, Maas RL. Building the developmental oculome: systems biology in vertebrate eye development and disease. Wiley Interdiscip Rev Syst Biol Med. 2010 May-Jun; 2(3):305-23. PMID: 20836031; PMCID: PMC4774529.
  36. Rowan S, Siggers T, Lachke SA, Yue Y, Bulyk ML, Maas RL. Precise temporal control of the eye regulatory gene Pax6 via enhancer-binding site affinity. Genes Dev. 2010 May 15; 24(10):980-5. PMID: 20413611; PMCID: PMC2867212.
  37. Song YS, Adler D, Xu F, Kayaalp E, Nureddin A, Anchan RM, Maas RL, Demirci U. Vitrification and levitation of a liquid droplet on liquid nitrogen. Proc Natl Acad Sci U S A. 2010 Mar 09; 107(10):4596-600. PMID: 20176969; PMCID: PMC2826340.
  38. Nakatomi M, Wang XP, Key D, Lund JJ, Turbe-Doan A, Kist R, Aw A, Chen Y, Maas RL, Peters H. Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Dev Biol. 2010 Apr 15; 340(2):438-49. PMID: 20123092.
    View in: PubMed
  39. Han J, Mayo J, Xu X, Li J, Bringas P, Maas RL, Rubenstein JL, Chai Y. Indirect modulation of Shh signaling by Dlx5 affects the oral-nasal patterning of palate and rescues cleft palate in Msx1-null mice. Development. 2009 Dec; 136(24):4225-33. PMID: 19934017; PMCID: PMC2781056.
  40. Purcell P, Joo BW, Hu JK, Tran PV, Calicchio ML, O'Connell DJ, Maas RL, Tabin CJ. Temporomandibular joint formation requires two distinct hedgehog-dependent steps. Proc Natl Acad Sci U S A. 2009 Oct 27; 106(43):18297-302. PMID: 19815519; PMCID: PMC2775291.
  41. Wang XP, O'Connell DJ, Lund JJ, Saadi I, Kuraguchi M, Turbe-Doan A, Cavallesco R, Kim H, Park PJ, Harada H, Kucherlapati R, Maas RL. Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood. Development. 2009 Jun; 136(11):1939-49. PMID: 19429790; PMCID: PMC2680115.
  42. Burdon KP, Hattersley K, Lachke SA, Laurie KJ, Maas RL, Mackey DA, Craig JE. Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract. Mol Vis. 2008; 14:1799-804. PMID: 18843385; PMCID: PMC2563027.
  43. Rowan S, Conley KW, Le TT, Donner AL, Maas RL, Brown NL. Notch signaling regulates growth and differentiation in the mammalian lens. Dev Biol. 2008 Sep 01; 321(1):111-22. PMID: 18588871; PMCID: PMC2593917.
  44. Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008 Mar; 82(3):712-22. PMID: 18319076; PMCID: PMC2427206.
  45. Nishimura W, Rowan S, Salameh T, Maas RL, Bonner-Weir S, Sell SM, Sharma A. Preferential reduction of beta cells derived from Pax6-MafB pathway in MafB deficient mice. Dev Biol. 2008 Feb 15; 314(2):443-56. PMID: 18199433; PMCID: PMC2435621.
  46. Kirchhoff F, Krebs C, Abdulhag UN, Meyer-Schwesinger C, Maas R, Helmchen U, Hilgers KF, Wolf G, Stahl RA, Wenzel U. Rapid development of severe end-organ damage in C57BL/6 mice by combining DOCA salt and angiotensin II. Kidney Int. 2008 Mar; 73(5):643-50. PMID: 18033241.
    View in: PubMed
  47. Williamson RE, Darrow KN, Michaud S, Jacobs JS, Jones MC, Eberl DF, Maas RL, Liberman MC, Morton CC. Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis. Am J Med Genet A. 2007 Jul 15; 143A(14):1630-9. PMID: 17534888.
    View in: PubMed
  48. Han J, Ishii M, Bringas P, Maas RL, Maxson RE, Chai Y. Concerted action of Msx1 and Msx2 in regulating cranial neural crest cell differentiation during frontal bone development. Mech Dev. 2007 Sep-Oct; 124(9-10):729-45. PMID: 17693062; PMCID: PMC2220014.
  49. Wang XP, Suomalainen M, Felszeghy S, Zelarayan LC, Alonso MT, Plikus MV, Maas RL, Chuong CM, Schimmang T, Thesleff I. An integrated gene regulatory network controls stem cell proliferation in teeth. PLoS Biol. 2007 Jun; 5(6):e159. PMID: 17564495; PMCID: PMC1885832.
  50. Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80. PMID: 17530927; PMCID: PMC1877820.
  51. Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr; 80(4):616-32. PMID: 17357069; PMCID: PMC1852714.
  52. Leach NT, Sun Y, Michaud S, Zheng Y, Ligon KL, Ligon AH, Sander T, Korf BR, Lu W, Harris DJ, Gusella JF, Maas RL, Quade BJ, Cole AJ, Kelz MB, Morton CC. Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Am J Hum Genet. 2007 Apr; 80(4):792-9. PMID: 17357084; PMCID: PMC1852716.
  53. Donner AL, Ko F, Episkopou V, Maas RL. Pax6 is misexpressed in Sox1 null lens fiber cells. Gene Expr Patterns. 2007 Apr; 7(5):606-13. PMID: 17306631; PMCID: PMC2246053.
  54. Donner AL, Episkopou V, Maas RL. Sox2 and Pou2f1 interact to control lens and olfactory placode development. Dev Biol. 2007 Mar 15; 303(2):784-99. PMID: 17140559; PMCID: PMC3276313.
  55. Donner AL, Lachke SA, Maas RL. Lens induction in vertebrates: variations on a conserved theme of signaling events. Semin Cell Dev Biol. 2006 Dec; 17(6):676-85. PMID: 17164096.
    View in: PubMed
  56. Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL. SUMO1 haploinsufficiency leads to cleft lip and palate. Science. 2006 Sep 22; 313(5794):1751. PMID: 16990542.
    View in: PubMed
  57. Nolte C, Rastegar M, Amores A, Bouchard M, Grote D, Maas R, Kovacs EN, Postlethwait J, Rambaldi I, Rowan S, Yan YL, Zhang F, Featherstone M. Stereospecificity and PAX6 function direct Hoxd4 neural enhancer activity along the antero-posterior axis. Dev Biol. 2006 Nov 15; 299(2):582-93. PMID: 17010333.
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  58. Kuraguchi M, Wang XP, Bronson RT, Rothenberg R, Ohene-Baah NY, Lund JJ, Kucherlapati M, Maas RL, Kucherlapati R. Adenomatous polyposis coli (APC) is required for normal development of skin and thymus. PLoS Genet. 2006 Sep 15; 2(9):e146. PMID: 17002498; PMCID: PMC1564426.
  59. Zhang X, Rowan S, Yue Y, Heaney S, Pan Y, Brendolan A, Selleri L, Maas RL. Pax6 is regulated by Meis and Pbx homeoproteins during pancreatic development. Dev Biol. 2006 Dec 15; 300(2):748-57. PMID: 17049510.
    View in: PubMed
  60. Purcell P, Oliver G, Mardon G, Donner AL, Maas RL. Pax6-dependence of Six3, Eya1 and Dach1 expression during lens and nasal placode induction. Gene Expr Patterns. 2005 Dec; 6(1):110-8. PMID: 16024294.
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  61. Bei M, Stowell S, Maas R. Msx2 controls ameloblast terminal differentiation. Dev Dyn. 2004 Dec; 231(4):758-65. PMID: 15499554.
    View in: PubMed
  62. Donner AL, Maas RL. Conservation and non-conservation of genetic pathways in eye specification. Int J Dev Biol. 2004; 48(8-9):743-53. PMID: 15558467.
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  63. Jumlongras D, Lin JY, Chapra A, Seidman CE, Seidman JG, Maas RL, Olsen BR. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Hum Genet. 2004 Feb; 114(3):242-9. PMID: 14689302.
    View in: PubMed
  64. Li X, Oghi KA, Zhang J, Krones A, Bush KT, Glass CK, Nigam SK, Aggarwal AK, Maas R, Rose DW, Rosenfeld MG. Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis. Nature. 2003 Nov 20; 426(6964):247-54. PMID: 14628042.
    View in: PubMed
  65. Han J, Ito Y, Yeo JY, Sucov HM, Maas R, Chai Y. Cranial neural crest-derived mesenchymal proliferation is regulated by Msx1-mediated p19(INK4d) expression during odontogenesis. Dev Biol. 2003 Sep 01; 261(1):183-96. PMID: 12941628.
    View in: PubMed
  66. Yao MW, Lim H, Schust DJ, Choe SE, Farago A, Ding Y, Michaud S, Church GM, Maas RL. Gene expression profiling reveals progesterone-mediated cell cycle and immunoregulatory roles of Hoxa-10 in the preimplantation uterus. Mol Endocrinol. 2003 Apr; 17(4):610-27. PMID: 12554760.
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  67. Ma L, Liu J, Wu T, Plikus M, Jiang TX, Bi Q, Liu YH, Müller-Röver S, Peters H, Sundberg JP, Maxson R, Maas RL, Chuong CM. 'Cyclic alopecia' in Msx2 mutants: defects in hair cycling and hair shaft differentiation. Development. 2003 Jan; 130(2):379-89. PMID: 12466204; PMCID: PMC4386654.
  68. Zhang X, Heaney S, Maas RL. Cre-loxp fate-mapping of Pax6 enhancer active retinal and pancreatic progenitors. Genesis. 2003 Jan; 35(1):22-30. PMID: 12481295.
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  69. Leader B, Lim H, Carabatsos MJ, Harrington A, Ecsedy J, Pellman D, Maas R, Leder P. Formin-2, polyploidy, hypofertility and positioning of the meiotic spindle in mouse oocytes. Nat Cell Biol. 2002 Dec; 4(12):921-8. PMID: 12447394.
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  70. Gritli-Linde A, Bei M, Maas R, Zhang XM, Linde A, McMahon AP. Shh signaling within the dental epithelium is necessary for cell proliferation, growth and polarization. Development. 2002 Dec; 129(23):5323-37. PMID: 12403705.
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  71. Zhang X, Friedman A, Heaney S, Purcell P, Maas RL. Meis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesis. Genes Dev. 2002 Aug 15; 16(16):2097-107. PMID: 12183364; PMCID: PMC186446.
  72. Xu PX, Zheng W, Laclef C, Maire P, Maas RL, Peters H, Xu X. Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid. Development. 2002 Jul; 129(13):3033-44. PMID: 12070080; PMCID: PMC3873877.
  73. Kwang SJ, Brugger SM, Lazik A, Merrill AE, Wu LY, Liu YH, Ishii M, Sangiorgi FO, Rauchman M, Sucov HM, Maas RL, Maxson RE. Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest. Development. 2002 Jan; 129(2):527-38. PMID: 11807043.
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  74. Couse JF, Dixon D, Yates M, Moore AB, Ma L, Maas R, Korach KS. Estrogen receptor-alpha knockout mice exhibit resistance to the developmental effects of neonatal diethylstilbestrol exposure on the female reproductive tract. Dev Biol. 2001 Oct 15; 238(2):224-38. PMID: 11784006.
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  75. Munnia A, Schütz N, Romeike BF, Maldener E, Glass B, Maas R, Nastainczyk W, Feiden W, Fischer U, Meese E. Expression, cellular distribution and protein binding of the glioma amplified sequence (GAS41), a highly conserved putative transcription factor. Oncogene. 2001 Aug 09; 20(35):4853-63. PMID: 11521196.
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  76. Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR. A nonsense mutation in MSX1 causes Witkop syndrome. Am J Hum Genet. 2001 Jul; 69(1):67-74. PMID: 11369996; PMCID: PMC1226049.
  77. Davis RJ, Shen W, Sandler YI, Amoui M, Purcell P, Maas R, Ou CN, Vogel H, Beaudet AL, Mardon G. Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality. Mol Cell Biol. 2001 Mar; 21(5):1484-90. PMID: 11238885; PMCID: PMC86694.
  78. Bei M, Kratochwil K, Maas RL. BMP4 rescues a non-cell-autonomous function of Msx1 in tooth development. Development. 2000 Nov; 127(21):4711-8. PMID: 11023873.
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  79. Dassule HR, Lewis P, Bei M, Maas R, McMahon AP. Sonic hedgehog regulates growth and morphogenesis of the tooth. Development. 2000 Nov; 127(22):4775-85. PMID: 11044393.
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  80. Chen Y, Zhang Y, Jiang TX, Barlow AJ, St Amand TR, Hu Y, Heaney S, Francis-West P, Chuong CM, Maas R. Conservation of early odontogenic signaling pathways in Aves. Proc Natl Acad Sci U S A. 2000 Aug 29; 97(18):10044-9. PMID: 10954731; PMCID: PMC27667.
  81. Branford WW, Benson GV, Ma L, Maas RL, Potter SS. Characterization of Hoxa-10/Hoxa-11 transheterozygotes reveals functional redundancy and regulatory interactions. Dev Biol. 2000 Aug 15; 224(2):373-87. PMID: 10926774.
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  82. Sivak JM, Mohan R, Rinehart WB, Xu PX, Maas RL, Fini ME. Pax-6 expression and activity are induced in the reepithelializing cornea and control activity of the transcriptional promoter for matrix metalloproteinase gelatinase B. Dev Biol. 2000 Jun 01; 222(1):41-54. PMID: 10885745.
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  83. Wawersik S, Maas RL. Vertebrate eye development as modeled in Drosophila. Hum Mol Genet. 2000 Apr 12; 9(6):917-25. PMID: 10767315.
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  84. Satokata I, Ma L, Ohshima H, Bei M, Woo I, Nishizawa K, Maeda T, Takano Y, Uchiyama M, Heaney S, Peters H, Tang Z, Maxson R, Maas R. Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nat Genet. 2000 Apr; 24(4):391-5. PMID: 10742104.
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  85. Wawersik S, Purcell P, Maas RL. Pax6 and the genetic control of early eye development. Results Probl Cell Differ. 2000; 31:15-36. PMID: 10929399.
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  86. Peters H, Wilm B, Sakai N, Imai K, Maas R, Balling R. Pax1 and Pax9 synergistically regulate vertebral column development. Development. 1999 Dec; 126(23):5399-408. PMID: 10556064.
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  87. Xu PX, Adams J, Peters H, Brown MC, Heaney S, Maas R. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet. 1999 Sep; 23(1):113-7. PMID: 10471511.
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  88. Kuratani S, Satokata I, Blum M, Komatsu Y, Haraguchi R, Nakamura S, Suzuki K, Kosai K, Maas R, Yamada G. Middle ear defects associated with the double knock out mutation of murine goosecoid and Msx1 genes. Cell Mol Biol (Noisy-le-grand). 1999 Jul; 45(5):589-99. PMID: 10512191.
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  89. Lim H, Ma L, Ma WG, Maas RL, Dey SK. Hoxa-10 regulates uterine stromal cell responsiveness to progesterone during implantation and decidualization in the mouse. Mol Endocrinol. 1999 Jun; 13(6):1005-17. PMID: 10379898.
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  90. Xu HE, Rould MA, Xu W, Epstein JA, Maas RL, Pabo CO. Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding. Genes Dev. 1999 May 15; 13(10):1263-75. PMID: 10346815; PMCID: PMC316729.
  91. Wawersik S, Purcell P, Rauchman M, Dudley AT, Robertson EJ, Maas R. BMP7 acts in murine lens placode development. Dev Biol. 1999 Mar 01; 207(1):176-88. PMID: 10049573.
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  92. Podlasek CA, Seo RM, Clemens JQ, Ma L, Maas RL, Bushman W. Hoxa-10 deficient male mice exhibit abnormal development of the accessory sex organs. Dev Dyn. 1999 Jan; 214(1):1-12. PMID: 9915571.
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  93. Ma L, Yao M, Maas RL. Genetic control of uterine receptivity during implantation. Semin Reprod Endocrinol. 1999; 17(3):205-16. PMID: 10797939.
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  94. Xu PX, Zhang X, Heaney S, Yoon A, Michelson AM, Maas RL. Regulation of Pax6 expression is conserved between mice and flies. Development. 1999 Jan; 126(2):383-95. PMID: 9847251.
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  95. Jain MK, Kashiki S, Hsieh CM, Layne MD, Yet SF, Sibinga NE, Chin MT, Feinberg MW, Woo I, Maas RL, Haber E, Lee ME. Embryonic expression suggests an important role for CRP2/SmLIM in the developing cardiovascular system. Circ Res. 1998 Nov 16; 83(10):980-5. PMID: 9815145.
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  96. Bei M, Maas R. FGFs and BMP4 induce both Msx1-independent and Msx1-dependent signaling pathways in early tooth development. Development. 1998 Nov; 125(21):4325-33. PMID: 9753686.
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  97. Ma L, Benson GV, Lim H, Dey SK, Maas RL. Abdominal B (AbdB) Hoxa genes: regulation in adult uterus by estrogen and progesterone and repression in müllerian duct by the synthetic estrogen diethylstilbestrol (DES). Dev Biol. 1998 May 15; 197(2):141-54. PMID: 9630742.
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  98. Sharon-Friling R, Richardson J, Sperbeck S, Lee D, Rauchman M, Maas R, Swaroop A, Wistow G. Lens-specific gene recruitment of zeta-crystallin through Pax6, Nrl-Maf, and brain suppressor sites. Mol Cell Biol. 1998 Apr; 18(4):2067-76. PMID: 9528779; PMCID: PMC121437.
  99. Xu PX, Cheng J, Epstein JA, Maas RL. Mouse Eya genes are expressed during limb tendon development and encode a transcriptional activation function. Proc Natl Acad Sci U S A. 1997 Oct 28; 94(22):11974-9. PMID: 9342347; PMCID: PMC23674.
  100. Xu PX, Woo I, Her H, Beier DR, Maas RL. Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development. 1997 Jan; 124(1):219-31. PMID: 9006082.
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  101. Maas R, Bei M. The genetic control of early tooth development. Crit Rev Oral Biol Med. 1997; 8(1):4-39. PMID: 9063623.
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  102. Chen Y, Bei M, Woo I, Satokata I, Maas R. Msx1 controls inductive signaling in mammalian tooth morphogenesis. Development. 1996 Oct; 122(10):3035-44. PMID: 8898217.
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  103. Phippard DJ, Weber-Hall SJ, Sharpe PT, Naylor MS, Jayatalake H, Maas R, Woo I, Roberts-Clark D, Francis-West PH, Liu YH, Maxson R, Hill RE, Dale TC. Regulation of Msx-1, Msx-2, Bmp-2 and Bmp-4 during foetal and postnatal mammary gland development. Development. 1996 Sep; 122(9):2729-37. PMID: 8787747.
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  104. Benson GV, Lim H, Paria BC, Satokata I, Dey SK, Maas RL. Mechanisms of reduced fertility in Hoxa-10 mutant mice: uterine homeosis and loss of maternal Hoxa-10 expression. Development. 1996 Sep; 122(9):2687-96. PMID: 8787743.
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  105. Maas R, Chen YP, Bei M, Woo I, Satokata I. The role of Msx genes in mammalian development. Ann N Y Acad Sci. 1996 Jun 08; 785:171-81. PMID: 8702124.
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  106. Den Otter W, De Groot JW, Bernsen MR, Heintz AP, Maas R, Hordijk GJ, Hill FW, Klein WR, Ruitenberg EJ, Rutten VP. Optimal regimes for local IL-2 tumour therapy. Int J Cancer. 1996 May 03; 66(3):400-3. PMID: 8621264.
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  107. Epstein JA, Shapiro DN, Cheng J, Lam PY, Maas RL. Pax3 modulates expression of the c-Met receptor during limb muscle development. Proc Natl Acad Sci U S A. 1996 Apr 30; 93(9):4213-8. PMID: 8633043; PMCID: PMC39514.
  108. Maas R. Keeping an eye on eye development. Nat Genet. 1996 Apr; 12(4):346-7. PMID: 8630480.
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  109. Epstein JA, Lam P, Jepeal L, Maas RL, Shapiro DN. Pax3 inhibits myogenic differentiation of cultured myoblast cells. J Biol Chem. 1995 May 19; 270(20):11719-22. PMID: 7744814.
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  110. Satokata I, Benson G, Maas R. Sexually dimorphic sterility phenotypes in Hoxa10-deficient mice. Nature. 1995 Mar 30; 374(6521):460-3. PMID: 7700356.
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  111. Benson GV, Nguyen TH, Maas RL. The expression pattern of the murine Hoxa-10 gene and the sequence recognition of its homeodomain reveal specific properties of Abdominal B-like genes. Mol Cell Biol. 1995 Mar; 15(3):1591-601. PMID: 7862151; PMCID: PMC230383.
  112. Epstein JA, Glaser T, Cai J, Jepeal L, Walton DS, Maas RL. Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev. 1994 Sep 01; 8(17):2022-34. PMID: 7958875.
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  113. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet. 1994 Aug; 7(4):463-71. PMID: 7951315.
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  114. Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet. 1994 Apr; 6(4):348-56. PMID: 7914451.
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  115. Epstein J, Cai J, Glaser T, Jepeal L, Maas R. Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes. J Biol Chem. 1994 Mar 18; 269(11):8355-61. PMID: 8132558.
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  116. Maas R, Elfering S, Glaser T, Jepeal L. Deficient outgrowth of the ureteric bud underlies the renal agenesis phenotype in mice manifesting the limb deformity (ld) mutation. Dev Dyn. 1994 Mar; 199(3):214-28. PMID: 7517224.
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  117. Glaser T, Ton CC, Mueller R, Petzl-Erler ML, Oliver C, Nevin NC, Housman DE, Maas RL. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). Genomics. 1994 Jan 01; 19(1):145-8. PMID: 8188215.
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  118. Barnett JV, Moustakas A, Lin W, Wang XF, Lin HY, Galper JB, Maas RL. Cloning and developmental expression of the chick type II and type III TGF beta receptors. Dev Dyn. 1994 Jan; 199(1):12-27. PMID: 8167376.
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  119. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. 1992 Nov; 2(3):232-9. PMID: 1345175.
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  120. Maas RL, Jepeal LI, Elfering SL, Holcombe RF, Morton CC, Eddy RL, Byers MG, Shows TB, Leder P. A human gene homologous to the formin gene residing at the murine limb deformity locus: chromosomal location and RFLPs. Am J Hum Genet. 1991 Apr; 48(4):687-95. PMID: 1673046; PMCID: PMC1682958.
  121. Maas R, Oppenheim J, Saadi S, Fuchs T, Maas WK. Isolation and properties of the RepA1 protein of the IncFII replicon, RepFIC. Mol Microbiol. 1991 Apr; 5(4):927-32. PMID: 1857211.
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  122. Woychik RP, Maas RL, Zeller R, Vogt TF, Leder P. 'Formins': proteins deduced from the alternative transcripts of the limb deformity gene. Nature. 1990 Aug 30; 346(6287):850-3. PMID: 2392150.
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