Zobrazeno 1 - 10
of 101
pro vyhledávání: '"POR Deficiency"'
Autor:
Walter L. Miller
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism
Annals of Pediatric Endocrinology & Metabolism, Vol 26, Iss 3, Pp 138-148 (2021)
Annals of Pediatric Endocrinology & Metabolism, Vol 26, Iss 3, Pp 138-148 (2021)
Most steroidogenesis disorders are caused by mutations in genes encoding the steroidogenic enzymes, but work in the past 20 years has identified related disorders caused by mutations in the genes encoding the cofactors that transport electrons from N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad16896475d34df03801498a7cf197f0
https://doi.org/10.6065/apem.2142154.077
https://doi.org/10.6065/apem.2142154.077
Autor:
Yena Lee, Arum Oh, Chong Kun Cheon, Cheol Woo Ko, Han-Wook Yoo, Gu-Hwan Kim, Jung Eun Moon, Sook-Hyun Park, Jin-Ho Choi
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 2, Pp 97-103 (2020)
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 2, Pp 97-103 (2020)
Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0933471159c475404c449b4a9bf87f0
https://doi.org/10.6065/apem.1938152.076
https://doi.org/10.6065/apem.1938152.076
Autor:
Florence Roucher-Boulez, Delphine Mallet, Shaheena Parween, Christa E. Flück, Yves Morel, Amit V. Pandey, Anne Lienhardt-Roussie
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism
Context: P450 oxidoreductase (POR) is required for the activities of steroid-metabolizing cytochrome P450 enzymes in the endoplasmic reticulum. POR deficiency (PORD) is a form of congenital adrenal hyperplasia. Objective and Aim: Enzymatic and struct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c11928bedc60dd32a87b719a27eb82d8
http://doc.rero.ch/record/331056/files/JCEM_101_12_4789.pdf
http://doc.rero.ch/record/331056/files/JCEM_101_12_4789.pdf
Autor:
Wencui Wang, Zhihan Wan, Zuwei Yang, Lei Ye, Shouyue Sun, Haorong Li, Guang Ning, Yan Qi, Sichang Zheng, Rulai Han
Publikováno v:
The Journal of steroid biochemistry and molecular biology. 211
Context Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic diseases caused by genetic deficiency in nine genes encoding steroidogenesis enzymes and cofactors. Objective To establish a targeted next-generation sequencing (N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2ba9782c93d6758ada19f84061ac421
https://pubmed.ncbi.nlm.nih.gov/33864926
https://pubmed.ncbi.nlm.nih.gov/33864926
Autor:
Soara Menabo, Valeria Di Natale, Federico Baronio, Benedetta Vestrucci, Antonio Balsamo, Alessandra Cassio, Rita Ortolano, Lilia Baldazzi, Giacomo Tonti
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 18, p 4605 (2019)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
The term ‘differences of sex development’ (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, or anatomical sex. Disorders of steroidogenesis comprise autosomal recessive conditi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a63c11f60a75f78a7ec7dc6a69f9877e
http://hdl.handle.net/11585/726523
http://hdl.handle.net/11585/726523
Publikováno v:
J Assist Reprod Genet
OBJECTIVE: To characterize the clinical features of a female with P450 oxidoreductase (POR) deficiency and to investigate the underlying mechanisms of POR inactivation. METHODS: The proband was a 35-year-old woman with primary infertility and menstru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9043ad152c3f46659baf5fed56dbc6ad
https://europepmc.org/articles/PMC7550433/
https://europepmc.org/articles/PMC7550433/
Publikováno v:
Journal of the Endocrine Society
Background PORD (P450 oxidoreductase deficiency) is a rare form of CAH with marked phenotypic variations due to differences in the degree of steroid hormone excess/deficiency. PORD results in17αhydroxylase/17,20lyase- CYP17, 21αhydroxylase- CYP21,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de8778c079b75bd1b350f0577209f08
https://doi.org/10.1210/jendso/bvaa046.1197
https://doi.org/10.1210/jendso/bvaa046.1197
Autor:
Anna Raggi, Didier Dewailly, Nelly Pitteloud, Fanny Chasseloup, Agathe Dumont, Georgios Papadakis, Sophie Catteau-Jonard, Jérôme Bouligand, Odile Boute-Benejean, Jacques Young
Publikováno v:
Journal of the Endocrine Society
P450 oxidoreductase deficiency (PORD) is an autosomal recessive disease caused by bi-allelic mutations of the POR gene. It is responsible for decreased activity of several P450 enzymes including CYP21A2, CYP17A1 and CYP19A1 that are involved in adren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a3ab22e3b2aea2fd7a18cf711c8dfb4
https://doi.org/10.1210/jendso/bvaa046.898
https://doi.org/10.1210/jendso/bvaa046.898
Autor:
Keiko Homma, Tomonobu Hasegawa, Tsutomu Ogata, Hiroyuki Ono, Seiji Tsutsumi, Chikahiko Numakura, Maki Fukami, Fumiko Kato, Yasuko Fujisawa
Publikováno v:
The Journal of Steroid Biochemistry and Molecular Biology. 178:177-184
Although POR deficiency (PORD) is assumed to be accompanied by excessive placental androgen accumulation and enhanced adrenal and testicular androgen production via the backdoor pathway as well as compromised testicular androgen production via the fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c623c38e29052b79e1b5cfc892faebe2
https://doi.org/10.1016/j.jsbmb.2017.12.008
https://doi.org/10.1016/j.jsbmb.2017.12.008
Publikováno v:
Pediatric Investigation
Importance: Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease exhibiting a variety of clinical manifestations. This condition specifically leads to disordered steroidogenesis, which can affect the development of the reproductive syst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b18b09fa3dc56a423e04faf2851c3e3
https://pubmed.ncbi.nlm.nih.gov/32851239
https://pubmed.ncbi.nlm.nih.gov/32851239