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pro vyhledávání: '"Wen-Xia Gu"'
Autor:
Gokhan Ozisik, J. Larry Jameson, Wen-Xia Gu, John C. Achermann, Lin Lin, Wing S. To, Catherine J. Owen
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 91:3048-3054
Context: Primary adrenal failure is a life-threatening condition that can be caused by a range of etiologies, including autoimmune, metabolic, and developmental disorders. The nuclear receptors DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A
Publikováno v:
Molecular Genetics and Metabolism. 71:520-526
Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone (T3) caused by mutations in the thyroid hormone receptor beta (TRbeta). The index patient of the family reported here, a 17-year-old woma
Autor:
Tom Kotlar, Wen-Xia Gu, William F. Crowley, Layman Lc, Richard J. Sherins, Stephanie B. Seminara, David Bick, Sabacan Lp, John C. Achermann, Joshua J. Meeks, J L Jameson, Reema L. Habiby, Peter C. Hindmarsh
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 84:4497-4500
Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following
Publikováno v:
American Journal of Medical Genetics. 83:23-27
Males with X-linked Kallmann syndrome (XLKS) may have renal agenesis. We studied a large kindred with a history of eight males affected by XLKS born in five generations. Their XLKS was shown to be due to an intragenic mutation of the KAL-1 gene. We a
Autor:
Guo-Guang Du, L. D. Kohn, A. Rentoumis, Peter Kopp, J L Jameson, Wen-Xia Gu, Laird D. Madison, Chris Albanese
Publikováno v:
Endocrinology. 136:3146-3153
The hyt/hyt mouse is hypothyroid because of a mutation in the TSH receptor (TSH-R). In this report, we confirm the presence of a Pro to Leu mutation in amino acid 556 of the fourth transmembrane domain (TM4) of the TSH-R. This Pro is highly conserved
A Novel Aminoterminal Mutation in the KAL-1 Gene in a Large Pedigree with X-Linked Kallmann Syndrome
Publikováno v:
Molecular Genetics and Metabolism. 65:59-61
Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia. Autosomal dominant, autosomal recessive, and X-linked patterns of transmission have been described. The X-linked form of Kallmann syndrome (XLKS) is the least common of
Autor:
Svetlana Ten, Henry Anhalt, Linda Heier, Steven Pavlakis, Wen-Xia Gu, J. Larry Jameson, Amrit Bhangoo
Publikováno v:
The Journal of clinical endocrinology and metabolism. 90(11)
Mutations in the gene encoding steroidogenic acute regulatory protein (StAR) are the most common cause of lipoid congenital adrenal hyperplasia (lipoid CAH), a disorder characterized by adrenal insufficiency and deficient gonadal steroid synthesis, r
Publikováno v:
Scopus-Elsevier
Activating somatic mutations in the thyrotropin (TSH) receptor have been identified as a cause of hyperfunctioning thyroid adenomas, and germline mutations have been found in familial nonautoimmune hyperthyroidism and sporadic congenital hyperthyroid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b52afdf3b60468ff2789a2f338519336
https://europepmc.org/articles/PMC508345/
https://europepmc.org/articles/PMC508345/
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