Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Sofia A. Rahman"'
Autor:
Louise C. Gregory, Carolina B. Ferreira, Sara K. Young-Baird, Hywel J. Williams, Magdalena Harakalova, Gijs van Haaften, Sofia A. Rahman, Carles Gaston-Massuet, Daniel Kelberman, GOSgene, Waseem Qasim, Sally A. Camper, Thomas E. Dever, Pratik Shah, Iain C.A.F. Robinson, Mehul T. Dattani
Publikováno v:
EBioMedicine, Vol 42, Iss , Pp 470-480 (2019)
Background: The heterotrimeric GTP-binding protein eIF2 forms a ternary complex with initiator methionyl-tRNA and recruits it to the 40S ribosomal subunit for start codon selection and thereby initiates protein synthesis. Mutations in EIF2S3, encodin
Externí odkaz:
https://doaj.org/article/61da4410358e47e8afd4a94b157fdcae
Autor:
Saira Hameed, Michael Patterson, Waljit S. Dhillo, Sofia A. Rahman, Yue Ma, Christopher Holton, Apostolos Gogakos, Giles S.H. Yeo, Brian Y.H. Lam, Joseph Polex-Wolf, Wiebke Fenske, Jimmy Bell, Jelena Anastasovska, Jacques Samarut, Stephen R. Bloom, J.H. Duncan Bassett, Graham R. Williams, James V. Gardiner
Publikováno v:
Cell Reports, Vol 19, Iss 11, Pp 2202-2209 (2017)
The obesity epidemic is a significant global health issue. Improved understanding of the mechanisms that regulate appetite and body weight will provide the rationale for the design of anti-obesity therapies. Thyroid hormones play a key role in metabo
Externí odkaz:
https://doaj.org/article/d368c488aef54187b714d5c151f12af6
Autor:
Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 34-43 (2021)
Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuro
Externí odkaz:
https://doaj.org/article/98ad2c4ca25547f1b7b9db3e4bc101ad
Autor:
Khalid Hussain, Meliha Demiral, Edip Unal, Dogus Vuralli, Riza Taner Baran, Mehmet Nuri Ozbek, Ayşe Nurcan Cebeci, Gonul Buyukyilmaz, Sophia Tahir, Maha Sherif, Atilla Cayir, Busra Cavdarli, Huseyin Demirbilek, Sofia A. Rahman
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 34-43 (2021)
Objective Bi-allelic mutations in wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized with non-autoimmune diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), sensorineural deafness (SND), urinary tract abnor
Publikováno v:
International Journal of Pediatric Endocrinology, Vol 2017, Iss 1, Pp 1-18 (2017)
International Journal of Pediatric Endocrinology
International Journal of Pediatric Endocrinology
Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5–5.5 mmol/L. Insulin, the only glucose lowering hormone secreted from pa
Autor:
Michael N. Weedon, Jill T. Norman, Monika Mozere, Michael Koettgen, Andrew Parrish, Anne Kesselheim, Naomi Issler, R. Drynda, André W. Brändli, Sofia A. Rahman, Anna Marie Bussell, Mehmet Tekman, Jesús Pozo, Horia Stanescu, Elizabeth Crowne, Elena García-Martínez, Patricia D. Wilson, Detlef Bockenhauer, Craig Jefferies, Oscar Rubio Cabezas, José María Martos, Vaksha Patel, Enriko Klootwijk, Richard Caswell, Montserrat Antón-Gamero, Daniela Iancu, Chris Cheshire, Simona Dumitriu, Hana Lango-Allen, Matthew B. Johnson, Peter B. Jones, Neil J. Sebire, Jesús Argente, Khalid Hussain, Sarah E. Flanagan, Julian P Hamilton-Shield, Celia Pérez-Cerdá, Peter D. Turnpenny, William van’t Hoff, Wesley Hayes, Daan H H M Viering, Lisa M. Guay-Woodford, Wendy Lewis, Alexis Hofherr, Robert Kleta, Sian Ellard
Publikováno v:
Cabezas, O R, Flanagan, S E, Stanescu, H, García-Martínez, E, Caswell, R, Lango-Allen, H, Antón-Gamero, M, Argente, J, Bussell, A M, Brandli, A, Cheshire, C, Crowne, E, Dumitriu, S, Drynda, R, Hamilton-Shield, J P, Hayes, W, Hofherr, A, Iancu, D, Issler, N, Jefferies, C, Jones, P, Johnson, M, Kesselheim, A, Klootwijk, E, Koettgen, M, Lewis, W, Martos, J M, Mozere, M, Norman, J, Patel, V, Parrish, A, Pérez-Cerdá, C, Pozo, J, Rahman, S A, Sebire, N, Tekman, M, Turnpenny, P D, Van'T Hoff, W, Viering, D H H M, Weedon, M N, Wilson, P, Guay-Woodford, L, Kleta, R, Hussain, K, Ellard, S & Bockenhauer, D 2017, ' Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 ', Journal of the American Society of Nephrology, vol. 28, no. 8, pp. 2529-2539 . https://doi.org/10.1681/ASN.2016121312
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5950ac964fcee8818a8545a3098a42c6
https://europepmc.org/articles/PMC5533241/
https://europepmc.org/articles/PMC5533241/
Publikováno v:
Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 7 (2016)
Frontiers in Endocrinology, Vol 7 (2016)
Under normal physiological conditions, pancreatic β-cells secrete insulin to maintain fasting blood glucose levels in the range 3.5–5.5 mmol/L. In hyperinsulinemic hypoglycemia (HH), this precise regulation of insulin secretion is perturbed so tha