Usher Syndromes

"Usher Syndromes" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.

Descriptor ID

D052245

MeSH Number(s)

C09.218.458.341.186.500.500

C09.218.458.341.887.886

C10.597.751.418.341.186.500.500

C10.597.751.418.341.887.886

C10.597.751.941.162.625.500

C11.768.585.658.500.813

C11.966.075.375.500

C16.131.077.299.500

C16.320.290.684.500

C23.888.592.763.393.341.887.886

Concept/Terms

Usher Syndromes

Usher Syndrome, Type II

Usher Syndrome, Type III

Usher Syndrome, Type I

Below are MeSH descriptors whose meaning is more general than "Usher Syndromes".

Diseases [C]
Otorhinolaryngologic Diseases [C09]
Ear Diseases [C09.218]
Hearing Disorders [C09.218.458]
Hearing Loss [C09.218.458.341]
Deafness [C09.218.458.341.186]
Deaf-Blind Disorders [C09.218.458.341.186.500]
Usher Syndromes [C09.218.458.341.186.500.500]
Hearing Loss, Sensorineural [C09.218.458.341.887]
Usher Syndromes [C09.218.458.341.887.886]
Nervous System Diseases [C10]
Neurologic Manifestations [C10.597]
Sensation Disorders [C10.597.751]
Hearing Disorders [C10.597.751.418]
Hearing Loss [C10.597.751.418.341]
Deafness [C10.597.751.418.341.186]
Deaf-Blind Disorders [C10.597.751.418.341.186.500]
Usher Syndromes [C10.597.751.418.341.186.500.500]
Hearing Loss, Sensorineural [C10.597.751.418.341.887]
Usher Syndromes [C10.597.751.418.341.887.886]
Vision Disorders [C10.597.751.941]
Blindness [C10.597.751.941.162]
Deaf-Blind Disorders [C10.597.751.941.162.625]
Usher Syndromes [C10.597.751.941.162.625.500]
Eye Diseases [C11]
Retinal Diseases [C11.768]
Retinal Degeneration [C11.768.585]
Retinal Dystrophies [C11.768.585.658]
Retinitis Pigmentosa [C11.768.585.658.500]
Usher Syndromes [C11.768.585.658.500.813]
Vision Disorders [C11.966]
Blindness [C11.966.075]
Deaf-Blind Disorders [C11.966.075.375]
Usher Syndromes [C11.966.075.375.500]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Deaf-Blind Disorders [C16.131.077.299]
Usher Syndromes [C16.131.077.299.500]
Genetic Diseases, Inborn [C16.320]
Eye Diseases, Hereditary [C16.320.290]
Retinitis Pigmentosa [C16.320.290.684]
Usher Syndromes [C16.320.290.684.500]
Pathological Conditions, Signs and Symptoms [C23]
Signs and Symptoms [C23.888]
Neurologic Manifestations [C23.888.592]
Sensation Disorders [C23.888.592.763]
Hearing Disorders [C23.888.592.763.393]
Hearing Loss [C23.888.592.763.393.341]
Hearing Loss, Sensorineural [C23.888.592.763.393.341.887]
Usher Syndromes [C23.888.592.763.393.341.887.886]

Below are MeSH descriptors whose meaning is related to "Usher Syndromes".

Below are MeSH descriptors whose meaning is more specific than "Usher Syndromes".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Usher Syndromes" by people in Harvard Catalyst Profiles by year, and whether "Usher Syndromes" was a major or minor topic of these publication.

Bar chart showing 31 publications over 17 distinct years, with a maximum of 4 publications in 2023

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2006	0	1	1
2007	0	1	1
2008	1	0	1
2009	0	1	1
2010	2	0	2
2011	3	0	3
2012	2	0	2
2013	1	1	2
2014	1	1	2
2015	1	0	1
2017	1	0	1
2018	1	0	1
2019	1	0	1
2020	2	0	2
2021	2	1	3
2022	3	0	3
2023	4	0	4

Below are the most recent publications written about "Usher Syndromes" by people in Profiles.

Third-generation lentiviral gene therapy rescues function in a mouse model of Usher 1B. Mol Ther. 2023 Dec 06; 31(12):3502-3519.

View in: PubMed
Rescue of hearing by adenine base editing in a humanized mouse model of Usher syndrome type 1F. Mol Ther. 2023 08 02; 31(8):2439-2453.

View in: PubMed
Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F. Nat Commun. 2023 04 26; 14(1):2400.

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Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy. Hum Mol Genet. 2023 01 13; 32(3):431-449.

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CRISPR/Cas9 editing of the MYO7A gene in rhesus macaque embryos to generate a primate model of Usher syndrome type 1B. Sci Rep. 2022 06 16; 12(1):10036.

View in: PubMed
Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes. EMBO Mol Med. 2022 04 07; 14(4):e14817.

View in: PubMed
Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear Hear. 2022 Jan/Feb; 43(1):1-8.

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Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease. Hear Res. 2021 09 15; 409:108329.

View in: PubMed
Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome. Cold Spring Harb Mol Case Stud. 2021 08; 7(4).

View in: PubMed
Improved CRISPR genome editing using small highly active and specific engineered RNA-guided nucleases. Nat Commun. 2021 07 09; 12(1):4219.

View in: PubMed

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