Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Darren W. Baker"'
Autor:
Elena Repnikova, Michelle Knoll, Darren W. Baker, Florencia del Viso, Matthew M Feldt, Henry Shiheng Jeng
Publikováno v:
Journal of the Endocrine Society
Background: Familial hypocalciuric hypercalcemia (FHH) type 1 is caused by inactivating pathogenic variants in the calcium sensing receptor (CASR) gene and clinically presents with serum hypercalcemia, low urine calcium excretion, and inappropriately
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c9bf1ba32510db726d9b1014b6686aa
https://doi.org/10.1210/jendso/bvaa046.626
https://doi.org/10.1210/jendso/bvaa046.626
Autor:
Rheem A. Totah, Andrea Gaedigk, Carrie A. Vyhlidal, Darren W. Baker, Roger Gaedigk, J. Steven Leeder, Darryl C. Zeldin, Robin E. Pearce
Publikováno v:
Journal of Pharmacology and Experimental Therapeutics. 319:523-532
CYP2J2 metabolizes arachidonic acid to 20-hydroxyeicosatetraenoic acid and epoxyeicosatrienoic acids (EETs), which play a critical role in the regulation of renal, pulmonary, cardiac, and vascular function. However, the contribution of CYP2J2 to EET
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07ce442b864ec04112d359ad2fe080c0
https://doi.org/10.1124/jpet.106.109215
https://doi.org/10.1124/jpet.106.109215
Publikováno v:
Molecular Diagnosis. 6:49-54
Background: The von Hippel-Lindau (VHL) gene has two translational initiation sites separated by 53 codons. Both proteins have been detected in cells and have equivalent activity. A mutation in the first 53 codons of the open reading frame has no eff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c53d54edba3a5b5d516069b53596053b
https://doi.org/10.2165/00066982-200106010-00006
https://doi.org/10.2165/00066982-200106010-00006
Autor:
Paul G. Rothberg, Darren W. Baker
Publikováno v:
Molecular Diagnosis. 3:157-161
Background: The I1307K (T3920→A) variant of the APC gene has been identified as a potential risk factor for colorectal cancer and is present in 6% of Ashkenazi Jews. Screening for this mutation may allow identification of people at elevated risk wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2123891ae2d7d3e0a9e48f0f977b3900
https://doi.org/10.1016/s1084-8592(98)80034-9
https://doi.org/10.1016/s1084-8592(98)80034-9
Publikováno v:
Molecular Diagnosis. 3:119-124
Background: Congenital adrenal hyperplasia (CAH) due to deficiency of steroid 21-hydroxylase (CYP21) is an autosomal recessive disease that is a major cause of ambiguous genitalia at birth in females. The milder late-onset form of the disease can cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00a1997145adef4e3253c52a5399b5d8
https://doi.org/10.1016/s1084-8592(98)80060-x
https://doi.org/10.1016/s1084-8592(98)80060-x
Publikováno v:
Genetic Testing. 2:343-346
Congenital adrenal hyperplasia due to deficiency of steroid 21-hydroxylase (CYP21) is most frequently due to mutations that arise from the nearby CYP21 pseudogene. The mechanism involves either unequal crossing over, which deletes part of the CYP21 f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe3e58a76ff2cb913083376d4248030
https://doi.org/10.1089/gte.1998.2.343
https://doi.org/10.1089/gte.1998.2.343
Autor:
John F. Bradley, David J. Harris, Paul G. Rothberg, Darren W. Baker, Satish Ponnuru, Gerhard W. Cibis, Daniel P. Heruth, Arnold I. Freeman
Publikováno v:
Molecular Carcinogenesis. 19:69-73
The retinoblastoma gene (RB) encodes a tumor suppressor that is inactivated in a number of different types of cancer. We searched for gross alterations of this gene in tumors of the central nervous system by using Southern blot hybridization. A commo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db5f1b9c681645473cd5a2cb3269cf6d
https://doi.org/10.1002/(sici)1098-2744(199707)19:2<69::aid-mc1>3.0.co
https://doi.org/10.1002/(sici)1098-2744(199707)19:2<69::aid-mc1>3.0.co
Publikováno v:
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology. 6(1)
Background: The von Hippel-Lindau ( VHL ) gene has two translational initiation sites separated by 53 codons. Both proteins have been detected in cells and have equivalent activity. A mutation in the first 53 codons of the open reading frame has no e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::973d7272fe34c1b57a8336cea609b432
https://pubmed.ncbi.nlm.nih.gov/11257211
https://pubmed.ncbi.nlm.nih.gov/11257211