Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms
نویسندگان
چکیده
منابع مشابه
Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.
In the past decade, we have witnessed great advances in the identification of genes underlying numerous neurodegenerative diseases and the stark complexity determining genotype-phenotype relationships that lead to the impairment, and ultimately, premature death of neurons. However, significant challenges lie ahead in understanding the pathobiological and spatiotemporal processes triggered by ge...
متن کاملX-linked retinitis pigmentosa.
Of 107 consecutive patients with genetically-determined retinitis pigmentosa, 23 were provisionally diagnosed as having inherited the disease in an X-linked fashion. 42 affected males and 61 females were examined, and from the data obtained the following conclusions were drawn: (1) X-linked retinitis pigmentosa exists and is distinct from choroideremia. (2) In contrast to the results of previou...
متن کاملRetinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: Insights into X-linked Retinitis Pigmentosa and associated ciliopathies
Mutations in the cilia-centrosomal protein Retinitis Pigmentosa GTPase Regulator (RPGR) are a frequent cause of retinal degeneration. The RPGR gene undergoes complex alternative splicing and encodes multiple protein isoforms. To elucidate the function of major RPGR isoforms (RPGR 1-19 and RPGR ORF15), we have generated isoform-specific antibodies and examined their expression and localization i...
متن کاملRetinitis Pigmentosa and Allied Disorders
Retinitis pigmentosa (RP) is a generic term for a group of disorders characterized by hereditary diffuse usually bilaterally symmetrical progressive dysfunction, cell loss and eventual atrophy of retina. Initially photoreceptors are involved and subsequently inner retina is damaged. Although both rods and cones are involved, damage to the rods is predominant. RP may be seen in isolation (Typica...
متن کاملRetinitis pigmentosa and allied diseases. Implications of genetic heterogeneity.
in response to a genetic defect, the human retina has two major categories of response: to degenerate or not to work well. Ophthalmologists and vision scientists have been successful during the last century in discovering variations in clinical course, symptoms, funduscopic appearance, and measurements of visual function that distinguish scores of hereditary retinal diseases. Most of this categ...
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: 2005
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddi272