Hearing loss in a mouse model of Muenke syndrome
نویسندگان
چکیده
منابع مشابه
Hearing loss in a mouse model of Muenke syndrome
The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome. Since FGF signalling plays dosage-sensitive roles in the differentiation of the auditory sensory epithelium, we evaluated hearing in a large group of Muenke syndro...
متن کاملHearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome (22q11DS) arises from an interstitial chromosomal microdeletion encompassing at least 30 genes. This disorder is one of the most significant known cytogenetic risk factors for schizophrenia, and can also cause heart abnormalities, cognitive deficits, hearing difficulties, and a variety of other medical problems. The Df1/+ hemizygous knockout mouse, a model for human 22...
متن کاملA small molecule mitigates hearing loss in a mouse model of Usher syndrome III
Usher syndrome type III (USH3), characterized by progressive deafness, variable balance disorder and blindness, is caused by destabilizing mutations in the gene encoding the clarin-1 (CLRN1) protein. Here we report a new strategy to mitigate hearing loss associated with a common USH3 mutation CLRN1(N48K) that involves cell-based high-throughput screening of small molecules capable of stabilizin...
متن کاملcost benefits of rehabilitation after acute coronary syndrome in iran; using an epidemiological model
چکیده ندارد.
Pseudoexfoliation Syndrome and Sensorineural Hearing Loss
Introduction: Pseudoexfoliation syndrome (PXS) occurs due to the deposition of extracellular fibrillar materials on the anterior chamber of the eye. This syndrome has been considered to be part of a systemic disease with the potential involvement of the inner ear called sensoroneural hearing loss (SNHL). In this study, we aimed on evaluating SNHL within PXS patients in Iran to compare them wi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2008
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddn311