Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Qizong Lao"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)
Abstract Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production. There is a continuum of phenotypes whi
Externí odkaz:
https://doaj.org/article/90d70de64b0b4ab88ea7fa002c4a49c1
Autor:
Vipula Kolli, Hannah Kim, Hamsini Rao, Qizong Lao, Alison Gaynor, Joshua D. Milner, Deborah P. Merke
Publikováno v:
BMC Research Notes, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Objective Approximately 10% of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency carry a mutation that disrupts CYP21A2 and the flanking TNXB gene resulting in CAH-X, a contiguous gene deletion syndrome. TNX
Externí odkaz:
https://doaj.org/article/5387be3a568f4f92b26cbdf007538642
Autor:
Qizong Lao, Ashwini Mallappa, Fabio Rueda Faucz, Elizabeth Joyal, Padmasree Veeraraghavan, Wuyan Chen, Deborah P. Merke
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency is an autosomal recessive disease of steroidogenesis that affects 1 in 15,000. Approximately, 10% of the CAH population also suffer from CAH‐X, a connective
Externí odkaz:
https://doaj.org/article/22eba82d14834c35bee7dfe4d8021b87
Autor:
Zhuo Liu, Wook Kim, Zhike Chen, Yu-Kyong Shin, Olga D Carlson, Jennifer L Fiori, Li Xin, Joshua K Napora, Ryan Short, Juliana O Odetunde, Qizong Lao, Josephine M Egan
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e16096 (2011)
Type 2 diabetes mellitus (T2DM) results from insulin resistance and β-cell dysfunction, in the setting of hyperglucagonemia. Glucagon is a 29 amino acid peptide hormone, which is secreted from pancreatic α cells: excessively high circulating levels
Externí odkaz:
https://doaj.org/article/5dac0caa7f2b44d7ae2971c61cef844b
Publikováno v:
J Mol Diagn
Many patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency have CAH-X syndrome, a connective tissue dysplasia consistent with hypermobility-type Ehlers-Danlos syndrome due to a contiguous gene deletion involving the adja
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ca2d590f5a1f7d2b885d54e6560a30
https://doi.org/10.1016/j.jmoldx.2019.06.001
https://doi.org/10.1016/j.jmoldx.2019.06.001
Publikováno v:
Gene. 687:30-34
The CYP21A2 gene encoding 21-hydroxylase is on chromosome 6p21.3 within the human leukocyte antigen (HLA) class III major histocompatibility complex and an association between congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce55d01c02b8ab3c596c22c5ebefeaf
https://doi.org/10.1016/j.gene.2018.11.023
https://doi.org/10.1016/j.gene.2018.11.023
Autor:
Deborah P. Merke, Qizong Lao
Publikováno v:
J Clin Endocrinol Metab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ca1b738aace5450443d02332d2d7eb
https://pubmed.ncbi.nlm.nih.gov/34351424
https://pubmed.ncbi.nlm.nih.gov/34351424
Autor:
Ashwini Mallappa, Padmasree Veeraraghavan, Qizong Lao, Fabio R. Faucz, Elizabeth Joyal, Wuyan Chen, Deborah P. Merke
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency is an autosomal recessive disease of steroidogenesis that affects 1 in 15,000. Approximately, 10% of the CAH population also suffer from CAH‐X, a connective tissue d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c64ab2d21a8006696f5259e8f55f52bd
https://doaj.org/article/22eba82d14834c35bee7dfe4d8021b87
https://doaj.org/article/22eba82d14834c35bee7dfe4d8021b87
Autor:
Deborah P. Merke, Vipula Kolli, Christina Tatsi, Hannah Kim, Ahmed Torky, Ashwini Mallappa, Qizong Lao
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 104:269-276
Context Cholesterol side-chain cleavage enzyme (P450scc), encoded by CYP11A1, catalyzes the first step of steroidogenesis. Complete P450scc deficiency leads to primary adrenal insufficiency (PAI) and 46,XY disordered sexual development. Partial impai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95ce3376ab89ff0d0398b8d752f90133
https://doi.org/10.1210/jc.2018-01661
https://doi.org/10.1210/jc.2018-01661
Autor:
Deborah P. Merke, Qizong Lao
Publikováno v:
European Journal of Human Genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deaf11be239d0a7606c26cae3ecbb5ca
http://europepmc.org/articles/PMC8298381
http://europepmc.org/articles/PMC8298381