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dc.contributor.author
Khattab, Ahmed  
dc.contributor.author
Haider, Shozeb  
dc.contributor.author
Kumar, Ameet  
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Dhawan, Samarth  
dc.contributor.author
Alam, Dauood  
dc.contributor.author
Romero, Raquel  
dc.contributor.author
Burns, James  
dc.contributor.author
Li, Di  
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Estatico, Jessica  
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Rahi, Simran  
dc.contributor.author
Fatima, Saleel  
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Alzahrani, Ali  
dc.contributor.author
Hafez, Mona  
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Musa, Noha  
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Azar, Maryam Razzghy  
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Khaloul, Najoua  
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Gribaa, Moez  
dc.contributor.author
Saad, Ali  
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Charfeddine, Ilhem Ben  
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De Mendonça, Berenice Bilharinho  
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Belgorosky, Alicia  
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Dumic, Katja  
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Dumic, Miroslav  
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Aisenberg, Javier  
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Kandemir, Nurgun  
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Alikasifoglu, Ayfer  
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Ozon, Alev  
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Gonc, Nazli  
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Cheng, Tina  
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Kuhnle Krahl, Ursula  
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Cappa, Marco  
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Holterhus, Paul-Martin  
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Nour, Munier A.  
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Pacaud, Daniele  
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Holtzman, Assaf  
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Li, Sun  
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Zaidi, Mone  
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Yuen, Tony  
dc.contributor.author
New, Maria I.  
dc.date.available
2018-07-26T21:34:35Z  
dc.date.issued
2017-03  
dc.identifier.citation
Khattab, Ahmed; Haider, Shozeb; Kumar, Ameet; Dhawan, Samarth; Alam, Dauood; et al.; Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency; National Academy of Sciences; Proceedings of the National Academy of Sciences of The United States of America; 114; 10; 3-2017; E1933-E1940  
dc.identifier.issn
0027-8424  
dc.identifier.uri
http://hdl.handle.net/11336/53249  
dc.description.abstract
Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11β-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 11β-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 11β-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 11β-hydroxylase deficiency CAH.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
National Academy of Sciences  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
Ambiguous Genitalia  
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Classic Cah  
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Missense Mutations  
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Steroid Hormones  
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Medicina Critica y de Emergencia  
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Medicina Clínica  
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CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2018-07-25T13:51:23Z  
dc.journal.volume
114  
dc.journal.number
10  
dc.journal.pagination
E1933-E1940  
dc.journal.pais
Estados Unidos  
dc.journal.ciudad
Washington DC, USA  
dc.description.fil
Fil: Khattab, Ahmed. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
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Fil: Haider, Shozeb. University College London; Estados Unidos  
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Fil: Kumar, Ameet. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
dc.description.fil
Fil: Dhawan, Samarth. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
dc.description.fil
Fil: Alam, Dauood. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
dc.description.fil
Fil: Romero, Raquel. University College London; Estados Unidos  
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Fil: Burns, James. University College London; Estados Unidos  
dc.description.fil
Fil: Li, Di. University College London; Estados Unidos  
dc.description.fil
Fil: Estatico, Jessica. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
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Fil: Rahi, Simran. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
dc.description.fil
Fil: Fatima, Saleel. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
dc.description.fil
Fil: Alzahrani, Ali. King Faisal Specialist Hospital And Research Centre; Arabia Saudita  
dc.description.fil
Fil: Hafez, Mona. Cairo University; Egipto  
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Fil: Musa, Noha. Cairo University; Egipto  
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Fil: Azar, Maryam Razzghy. Iran University Of Medical Sciences; Irán  
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Fil: Khaloul, Najoua. Hopital Farhat Hached Sousse; Túnez  
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Fil: Gribaa, Moez. Hopital Farhat Hached Sousse; Túnez  
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Fil: Saad, Ali. Hopital Farhat Hached Sousse; Túnez  
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Fil: Charfeddine, Ilhem Ben. Hopital Farhat Hached Sousse; Túnez  
dc.description.fil
Fil: De Mendonça, Berenice Bilharinho. Universidade de Sao Paulo; Brasil  
dc.description.fil
Fil: Belgorosky, Alicia. Hospital de Pediatria Samic Prof. Dr. Juan P. Garrahan; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina  
dc.description.fil
Fil: Dumic, Katja. University Of Zagreb. School Of Medicine; Croacia  
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Fil: Dumic, Miroslav. University Of Zagreb. School Of Medicine; Croacia  
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Fil: Aisenberg, Javier. Hackensack University Medical Center; Estados Unidos  
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Fil: Kandemir, Nurgun. Hacettepe Universitesi; Turquía  
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Fil: Alikasifoglu, Ayfer. Hacettepe Universitesi; Turquía  
dc.description.fil
Fil: Ozon, Alev. Hacettepe Universitesi; Turquía  
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Fil: Gonc, Nazli. Hacettepe Universitesi; Turquía  
dc.description.fil
Fil: Cheng, Tina. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
dc.description.fil
Fil: Kuhnle Krahl, Ursula. University of Munich; Alemania  
dc.description.fil
Fil: Cappa, Marco. Ospedale Pediatrico Bambino Gesu; Italia  
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Fil: Holterhus, Paul-Martin. Universitatsklinikum Schleswig-Holstein; Alemania  
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Fil: Nour, Munier A.. University of Saskatchewan; Canadá  
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Fil: Pacaud, Daniele. University of Calgary; Canadá  
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Fil: Holtzman, Assaf. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
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Fil: Li, Sun. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
dc.description.fil
Fil: Zaidi, Mone. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
dc.description.fil
Fil: Yuen, Tony. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
dc.description.fil
Fil: New, Maria I.. Icahn School Of Medicine At Mount Sinai; Estados Unidos  
dc.journal.title
Proceedings of the National Academy of Sciences of The United States of America  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/28228528/  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.pnas.org/content/114/10/E1933  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1073/pnas.1621082114