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2002 1
2004 1
2005 1
2006 1
2010 1
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2013 1
2015 2
2017 1
2022 2
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Page 1
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
The contribution of ACTG1 and WFS1 drops to 9% in both cases, followed by POU4F3 (6.5%), MYO7A (5%), MYH14 and COL11A2 (4% each). Four additional genes contribute 2.5% each one (MITF, KCNQ4, EYA4, SOX10) and the remaining are residually represented. …
The contribution of ACTG1 and WFS1 drops to 9% in both cases, followed by POU4F3 (6.5%), MYO7A (5%), MYH14 and COL11A2 (4% eac …
Connexin Mutations and Hereditary Diseases.
Qiu Y, Zheng J, Chen S, Sun Y. Qiu Y, et al. Int J Mol Sci. 2022 Apr 12;23(8):4255. doi: 10.3390/ijms23084255. Int J Mol Sci. 2022. PMID: 35457072 Free PMC article. Review.
Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin diseases, and X-linked Charcot-Marie-Tooth disease (CMT1X). ...Finally, the complete …
Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, co …
Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.
Bush RA, Wei LL, Sieving PA. Bush RA, et al. Cold Spring Harb Perspect Med. 2015 Jun 22;5(8):a017368. doi: 10.1101/cshperspect.a017368. Cold Spring Harb Perspect Med. 2015. PMID: 26101206 Free PMC article. Review.
Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males. X-linked retinoschisis (XLRS) typically affects young males; however, progressive vision loss continues throughout life. ...
Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males. X-linked retinoschisi …
Role of skeletal muscle in ear development.
Rot I, Baguma-Nibasheka M, Costain WJ, Hong P, Tafra R, Mardesic-Brakus S, Mrduljas-Djujic N, Saraga-Babic M, Kablar B. Rot I, et al. Histol Histopathol. 2017 Oct;32(10):987-1000. doi: 10.14670/HH-11-886. Epub 2017 Mar 8. Histol Histopathol. 2017. PMID: 28271491 Review.
The current paper is a continuation of our work described in Rot and Kablar, 2010. Here, we show lists of 10 up- and 87 down-regulated genes obtained by a cDNA microarray analysis that compared developing Myf5-/-:Myod-/- (and Mrf4-/-) petrous part of the temporal bone, con …
The current paper is a continuation of our work described in Rot and Kablar, 2010. Here, we show lists of 10 up- and 87 down-regulated ge …
Mapping and cloning hereditary deafness genes.
Cremers FP, Bitner-Glindzicz M, Pembrey ME, Ropers HH. Cremers FP, et al. Curr Opin Genet Dev. 1995 Jun;5(3):371-5. doi: 10.1016/0959-437x(95)80053-0. Curr Opin Genet Dev. 1995. PMID: 7549433 Free article. Review.
In the past two years, considerable progress has been made in the mapping and cloning of human deafness genes. Highlights are the chromosomal localization of at least five genes for autosomal forms of non-syndromic deafness and, more recently, the clon …
In the past two years, considerable progress has been made in the mapping and cloning of human deafness genes. Highlights are …
The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
Duley JA, Christodoulou J, de Brouwer AP. Duley JA, et al. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1129-39. doi: 10.1080/15257770.2011.591747. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132967 Review.
Defects in X-linked phosphoribosylpyrophosphate synthetase 1 (PRPS1) manifest as follows: (1) PRS-I enzyme "superactivity" (gain-of-function mutations affecting allosteric regions); (2) PRS-I overexpression (which may be linked to miRNA mutation); (3) severe PRS-I d …
Defects in X-linked phosphoribosylpyrophosphate synthetase 1 (PRPS1) manifest as follows: (1) PRS-I enzyme "superactivity" (ga …
The clinical spectrum of type IV collagen mutations.
Lemmink HH, Schröder CH, Monnens LA, Smeets HJ. Lemmink HH, et al. Hum Mutat. 1997;9(6):477-99. doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9195222 Review.
Clinical manifestations of type IV collagen mutations can vary from the severe, clinically and genetically heterogeneous renal disorder, Alport syndrome, to autosomal dominant familial benign hematuria. The predominant form of Alport syndrome is X-linked; more than …
Clinical manifestations of type IV collagen mutations can vary from the severe, clinically and genetically heterogeneous renal disorder, Alp …
Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R, Patel K, Mittal J, Chan B, Yan D, Grati M, Liu XZ. Mittal R, et al. Dis Markers. 2015;2015:127013. doi: 10.1155/2015/127013. Epub 2015 May 24. Dis Markers. 2015. PMID: 26089585 Free PMC article. Review.
Patients with PRS-I superactivity demonstrate uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, and postlingual hearing impairment. On the other hand, decreased activity leads to X-linked nonsyndromic sensorineural deafness (DFNX-2) …
Patients with PRS-I superactivity demonstrate uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, and postlingual h …
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D. Liu XZ, et al. Int J Audiol. 2013 Jan;52(1):23-8. doi: 10.3109/14992027.2012.736032. Epub 2012 Nov 28. Int J Audiol. 2013. PMID: 23190330 Free PMC article. Review.
Hearing loss in male patients with PRPS1 mutations is bilateral, moderate to profound, and can be prelingual or postlingual, progressive or non-progressive. Audiogram shapes associated with PRPS1 deafness are usually residual and flat. Female carriers can have unilateral o …
Hearing loss in male patients with PRPS1 mutations is bilateral, moderate to profound, and can be prelingual or postlingual, progressive or …
Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
Vervoort R, Wright AF. Vervoort R, et al. Hum Mutat. 2002 May;19(5):486-500. doi: 10.1002/humu.10057. Hum Mutat. 2002. PMID: 11968081 Review.
Mutations in RPGR, retinitis pigmentosa GTPase regulator, are associated with RP3 type of X-linked retinitis pigmentosa, a severe, non-syndromic form of retinal degeneration. ...Exon ORF15 is a "hot spot" for mutation, at least in the British population, in which it …
Mutations in RPGR, retinitis pigmentosa GTPase regulator, are associated with RP3 type of X-linked retinitis pigmentosa, a sev …
20 results