A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A

2014 ◽  
Vol 27 (3-4) ◽  
Author(s):  
Wei-Wei Hu ◽  
Yao-Hua Ke ◽  
Jin-Wei He ◽  
Wen-Zhen Fu ◽  
Chun Wang ◽  
...  
Keyword(s):  
Vitamin D ◽  
Chinese Family ◽  
Compound Mutation

Fibrinogen BOE II: Intracerebral hemorrhage associated with a novel compound mutation in a Chinese family with dysfibrinogenemia

2020 ◽  
Vol 196 ◽  
pp. 63-66
Author(s):  
Xiaoyu Wang ◽  
Yang Li ◽  
Zhongqiu Luo ◽  
Yan Hu ◽  
Rong Wang ◽  
...  
Keyword(s):  
Intracerebral Hemorrhage ◽  
Chinese Family ◽  
Compound Mutation

scholarly journals Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family

2016 ◽  
Vol 36 (1) ◽  
Author(s):  
Xin Jin ◽  
Ling-Hui Qu ◽  
Bao-Ke Hou ◽  
Hai-Wei Xu ◽  
Xiao-Hong Meng ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Protein Product ◽  
Compound Heterozygous Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Rod Photoreceptors ◽  
Gene Coding ◽  
Compound Mutation

A novel compound mutation in CNGA1 gene, coding for the cGMP-gated ion channel protein, results in a protein product that is not targeted to the plasma membrane, which would be deleterious to rod photoreceptors leading to retinitis pigmentosa (RP).

scholarly journals Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

Bone Research ◽  
2016 ◽  
Vol 4 (1) ◽  
Author(s):  
Qianqian Pang ◽  
Xuan Qi ◽  
Yan Jiang ◽  
Ou Wang ◽  
Mei Li ◽  
...  
Keyword(s):  
Vitamin D ◽  
Chinese Family ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

Association of vitamin D receptor genotypes with early onset rheumatoid arthritis

2001 ◽  
Vol 28 (1) ◽  
pp. 89-93 ◽  
Author(s):  
J. R. Garcia-Lozano ◽  
M. F. Gonzalez-Escribano ◽  
A. Valenzuela ◽  
A. Garcia ◽  
A. Nunez-Roldan
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Early Onset

803: Interactions Between Ultraviolet Radiation and Polymorphisms in the Vitamin D Receptor Gene Mediate Prostate Cancer Susceptibility

2006 ◽  
Vol 175 (4S) ◽  
pp. 260-260
Author(s):  
Nicholas J. Rukin ◽  
Samuel J. Moon ◽  
Dhaval Bodiwala ◽  
Christopher J. Luscombe ◽  
Mark F. Saxby ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Vitamin D ◽  
Ultraviolet Radiation ◽  
Vitamin D Receptor ◽  
Cancer Susceptibility ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Prostate Cancer Susceptibility

190: BXL-628, a Vitamin D Analog, Decreases RHOA/ROK Signalling in Rat and Human Bladder

2006 ◽  
Vol 175 (4S) ◽  
pp. 62-62
Author(s):  
Annamaria Morelli ◽  
Sandra Filippi ◽  
Rosa Mancina ◽  
Linda Vignozzi ◽  
Gabriella B. Vannelli ◽  
...  
Keyword(s):  
Vitamin D ◽  
Human Bladder ◽  
Vitamin D Analog

1615: Testicular Maturation Arrest to Testis Cancer - is there a Spectrum of Expression of Vitamin D Receptors and a Role for Vitamin D Treatment

2006 ◽  
Vol 175 (4S) ◽  
pp. 520-521
Author(s):  
Ajay K. Nangia ◽  
Vince Memoli ◽  
Alan Schned ◽  
Oya Hill ◽  
Catherine E. Schwender
Keyword(s):  
Vitamin D ◽  
Testis Cancer ◽  
Maturation Arrest ◽  
Vitamin D Receptors
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