نتایج جستجو برای: hypotrichosis

تعداد نتایج: 1028  

Journal: :Development 2008
Yutaka Shimomura Muhammad Wajid Lawrence Shapiro Angela M Christiano

P-cadherin is a member of the classical cadherin family that forms the transmembrane core of adherens junctions. Recently, mutations in the P-cadherin gene (CDH3) have been shown to cause two inherited diseases in humans: hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). The common features of both diseases are sparse ...

Journal: :Human heredity 2009
Lynn Petukhova Yutaka Shimomura Muhammad Wajid Prakash Gorroochurn Susan E Hodge Angela M Christiano

Autozygosity mapping in consanguineous families has proven to be a powerful method for identifying recessive disease genes. Using this technique with whole genome SNP data generated from low density mapping arrays, we previously identified two genes that underlie autosomal recessive woolly hair (ARWH/hypotrichosis; OMIM278150), specifically P2RY5 and Lipase H (LIPH). In the current study, we so...

2016
Xiao-Tao Jiang Feng Guo Tong Zhang

Bulking and foaming are two notorious problems in activated sludge wastewater treatment plants (WWTPs), which are mainly associated with the excessive growth of bulking and foaming bacteria (BFB). However, studies on affecting factors of BFB in full-scale WWTPs are still limited. In this study, data sets of high-throughput sequencing (HTS) of 16S V3-V4 amplicons of 58 monthly activated sludge s...

Journal: :Archives of ophthalmology 2012
Stephanie Halford Richard Holt Andrea H Németh Susan M Downes

H ypotrichosis associated with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by short scalp hair from birth and progressive macular degeneration. Loss of central vision usually occurs between the second and fourth decades of life. Mutations in the P-cadherin gene (CDH3; GenBank NM_001793) were first reported to underlie HJMD by Sprecher et a...

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