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10.1073/pnas.1621082114 http://scihub22266oqcxt.onion/10.1073/pnas.1621082114 C5347606!5347606 !28228528     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28228528 &cmd=llinks): Failed to open stream: HTTP request failed! 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Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11?-hydroxylase deficiency |pdf=|usr=}}{{28228528 }} gab.com Text Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11 -hydroxylase deficiency JO: Proc Natl Acad Sci U S A http://www.kidney.de/pget.php?&tw=1&pmid=28228528 #FOAvip Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11?-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive. We find that 11-deoxycortisol, not frequently measured, is the most robust biochemical marker for diagnosing 11?-hydroxylase deficiency. Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448C) or substrate-binding (W116C) site of 11?-hydroxylase, or alterations in its stability (L299P and G267S), may predict severe disease. Thus, we report clinical, genetic, hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 108 patients with steroid 11?-hydroxylase deficiency CAH. Twit Text FOAVip Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11 -hydroxylase deficiency ????Proc Natl Acad Sci U S A http://www.kidney.de/pget.php?&tw=1&pmid=28228528 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28228528 #FOAvip English Wikipedia <ref>{{Cite pmid|28228528 }}</ref> Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11?-hydroxylase deficiency #MMPMID28228528 Khattab A ; Haider S ; Kumar A ; Dhawan S ; Alam D ; Romero R ; Burns J ; Li D ; Estatico J ; Rahi S ; Fatima S ; Alzahrani A ; Hafez M ; Musa N ; Razzghy Azar M ; Khaloul N ; Gribaa M ; Saad A ; Charfeddine IB ; Bilharinho de Mendonça B ; Belgorosky A ; Dumic K ; Dumic M ; Aisenberg J ; Kandemir N ; Alikasifoglu A ; Ozon A ; Gonc N ; Cheng T ; Kuhnle-Krahl U ; Cappa M ; Holterhus PM ; Nour MA ; Pacaud D ; Holtzman A ; Li S ; Zaidi M ; Yuen T ; New MI Proc Natl Acad Sci U S A 2017[Mar]; 114 (10 ): E1933-E1940 PMID28228528 show ga Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11?-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive. We find that 11-deoxycortisol, not frequently measured, is the most robust biochemical marker for diagnosing 11?-hydroxylase deficiency. Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448C) or substrate-binding (W116C) site of 11?-hydroxylase, or alterations in its stability (L299P and G267S), may predict severe disease. Thus, we report clinical, genetic, hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 108 patients with steroid 11?-hydroxylase deficiency CAH. |Adrenal Hyperplasia, Congenital/*genetics/pathology [MESH] |Africa, Northern [MESH] |Consanguinity [MESH] |Female [MESH] |Gonadal Steroid Hormones/biosynthesis/genetics [MESH] |Humans [MESH] |Male [MESH] |Middle East [MESH] |Mutation, Missense [MESH] |Pedigree [MESH]Clinical, genetic, and structural basis of congenital adrenal hyperpla(epmc).pdf DeepDyve Pubget Overpricing