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Pregled bibliografske jedinice broj: 1268230

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β- hydroxylase deficiency

Khattab, Ahmed; Haider, Shozeb; Kumar, Ameet; Dhawan, Samarth; Alam, Dauood; Romero, Raquel; Burns, James; Li, Di; Estatico, Jessica; Rahi, Simran et al.
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β- hydroxylase deficiency // Proceedings of the National Academy of Sciences, 114 (2017), 10; 1933-1940 doi:10.1073/pnas.1621082114 (međunarodna recenzija, članak, znanstveni)

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Naslov
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β- hydroxylase deficiency

Autori
Khattab, Ahmed ; Haider, Shozeb ; Kumar, Ameet ; Dhawan, Samarth ; Alam, Dauood ; Romero, Raquel ; Burns, James ; Li, Di ; Estatico, Jessica ; Rahi, Simran ; Fatima, Saleel ; Alzahrani, Ali ; Hafez, Mona ; Musa, Noha ; Razzghy Azar, Maryam ; Khaloul, Najoua ; Gribaa, Moez ; Saad, Ali ; Charfeddine, Ilhem Ben ; Bilharinho de Mendonça, Berenice ; Belgorosky, Alicia ; Dumic, Katja ; Dumic, Miroslav ; Aisenberg, Javier ; Kandemir, Nurgun ; Alikasifoglu, Ayfer ; Ozon, Alev ; Gonc, Nazli ; Cheng, Tina ; Kuhnle-Krahl, Ursula ; Cappa, Marco ; Holterhus, Paul-Martin ; Nour, Munier A. ; Pacaud, Daniele ; Holtzman, Assaf ; Li, Sun ; Zaidi, Mone ; Yuen, Tony ; New, Maria I.

Izvornik
Proceedings of the National Academy of Sciences (0027-8424) 114 (2017), 10; 1933-1940

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
steroid hormones ; missense mutations ; classic CAH ; ambiguous genitalia

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Katja Dumić Kubat (autor)

Poveznice na cjeloviti tekst rada:

doi www.pnas.org

Citiraj ovu publikaciju:

Khattab, Ahmed; Haider, Shozeb; Kumar, Ameet; Dhawan, Samarth; Alam, Dauood; Romero, Raquel; Burns, James; Li, Di; Estatico, Jessica; Rahi, Simran et al.
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β- hydroxylase deficiency // Proceedings of the National Academy of Sciences, 114 (2017), 10; 1933-1940 doi:10.1073/pnas.1621082114 (međunarodna recenzija, članak, znanstveni)
Khattab, A., Haider, S., Kumar, A., Dhawan, S., Alam, D., Romero, R., Burns, J., Li, D., Estatico, J. & Rahi, S. (2017) Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β- hydroxylase deficiency. Proceedings of the National Academy of Sciences, 114 (10), 1933-1940 doi:10.1073/pnas.1621082114.
@article{article, author = {Khattab, Ahmed and Haider, Shozeb and Kumar, Ameet and Dhawan, Samarth and Alam, Dauood and Romero, Raquel and Burns, James and Li, Di and Estatico, Jessica and Rahi, Simran and Fatima, Saleel and Alzahrani, Ali and Hafez, Mona and Musa, Noha and Razzghy Azar, Maryam and Khaloul, Najoua and Gribaa, Moez and Saad, Ali and Charfeddine, Ilhem Ben and Bilharinho de Mendon\c{c}a, Berenice and Belgorosky, Alicia and Dumic, Katja and Dumic, Miroslav and Aisenberg, Javier and Kandemir, Nurgun and Alikasifoglu, Ayfer and Ozon, Alev and Gonc, Nazli and Cheng, Tina and Kuhnle-Krahl, Ursula and Cappa, Marco and Holterhus, Paul-Martin and Nour, Munier A. and Pacaud, Daniele and Holtzman, Assaf and Li, Sun and Zaidi, Mone and Yuen, Tony and New, Maria I.}, year = {2017}, pages = {1933-1940}, DOI = {10.1073/pnas.1621082114}, keywords = {steroid hormones, missense mutations, classic CAH, ambiguous genitalia}, journal = {Proceedings of the National Academy of Sciences}, doi = {10.1073/pnas.1621082114}, volume = {114}, number = {10}, issn = {0027-8424}, title = {Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β- hydroxylase deficiency}, keyword = {steroid hormones, missense mutations, classic CAH, ambiguous genitalia} }
@article{article, author = {Khattab, Ahmed and Haider, Shozeb and Kumar, Ameet and Dhawan, Samarth and Alam, Dauood and Romero, Raquel and Burns, James and Li, Di and Estatico, Jessica and Rahi, Simran and Fatima, Saleel and Alzahrani, Ali and Hafez, Mona and Musa, Noha and Razzghy Azar, Maryam and Khaloul, Najoua and Gribaa, Moez and Saad, Ali and Charfeddine, Ilhem Ben and Bilharinho de Mendon\c{c}a, Berenice and Belgorosky, Alicia and Dumic, Katja and Dumic, Miroslav and Aisenberg, Javier and Kandemir, Nurgun and Alikasifoglu, Ayfer and Ozon, Alev and Gonc, Nazli and Cheng, Tina and Kuhnle-Krahl, Ursula and Cappa, Marco and Holterhus, Paul-Martin and Nour, Munier A. and Pacaud, Daniele and Holtzman, Assaf and Li, Sun and Zaidi, Mone and Yuen, Tony and New, Maria I.}, year = {2017}, pages = {1933-1940}, DOI = {10.1073/pnas.1621082114}, keywords = {steroid hormones, missense mutations, classic CAH, ambiguous genitalia}, journal = {Proceedings of the National Academy of Sciences}, doi = {10.1073/pnas.1621082114}, volume = {114}, number = {10}, issn = {0027-8424}, title = {Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β- hydroxylase deficiency}, keyword = {steroid hormones, missense mutations, classic CAH, ambiguous genitalia} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE
  • EconLit

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