Zobrazeno 1 - 10
of 304
pro vyhledávání: ''
Autor:
Lutz Schomburg, Josef Köhrle, Laura Kalveram, Annette Grüters-Kieslich, Heike Biebermann, Mariusz W. Szkudlinski, Gunnar Kleinau
Publikováno v:
Molecular Endocrinology. 30:954-964
Naturally occurring thyrotropin (TSH) mutations are rare, which is also the case for the homologous heterodimeric glycoprotein hormones (GPHs) follitropin (FSH), lutropin (LH), and choriogonadotropin (CG). Patients with TSH-inactivating mutations pre
Publikováno v:
Molecular Endocrinology. 30:173-188
Glucocorticoid receptor (GR) gene mutations may cause familial or sporadic generalized glucocorticoid resistance syndrome. Most of the missense forms distribute in the ligand-binding domain and impair its ligand-binding activity and formation of the
Autor:
Deborah L. Segaloff, George P. Chrousos, Q. R. Fan, Amalia Sertedaki, L. G. Silveira, Evangelia Charmandari, Ana Claudia Latronico, Meilin Zhang, Rongbin Guan
Publikováno v:
Molecular Endocrinology. 30:62-76
We demonstrate 2 novel mutations of the LHCGR, each homozygous, in a 46,XY patient with severe Leydig cell hypoplasia. One is a mutation in the signal peptide (p.Gln18_Leu19ins9; referred to here as SP) that results in an alteration of the coding seq
Novel Insertion Mutation in KCNJ5 Channel Produces Constitutive Aldosterone Release From H295R Cells
Autor:
Ruth D. Murrell-Lagnado, Andrew J. Thompson, Kevin M. O'Shaughnessy, Richard D. Gordon, Nichola Figg, Iris Hardege, Michael Stowasser, Shengxin Xu
Publikováno v:
Molecular Endocrinology. 29:1522-1530
Primary aldosteronism accounts for 5%-10% of hypertension and in a third of cases is caused by autonomous aldosterone production by adenomas (APA). Somatic mutations in the potassium channel encoded by KCNJ5 have been detected in surgically removed A
Autor:
Chunxue Wang, Martin Egli, Michael R. Waterman, F. Peter Guengerich, Pradeep S. Pallan, Li Lei
Publikováno v:
Molecular Endocrinology. 29:1375-1384
Cytochrome P450 21A2 is a key player in steroid 21-hydroxylation and converts progesterone to 11-deoxycorticosterone and 17α-hydroxy progesterone to 11-deoxycortisol. More than 100 mutations in P450 21A2 have been established in patients thus far; t
Autor:
Jimmy K. Eng, Alexey I. Nesvizhskii, Harryl D. Martinez, Jordy J. Hsiao, Rohini J. Jasavala, Brandon H. Ng, Melinda M. Smits, Damian Fermin, Michael E. Wright, Izumi V. Hinkson
Publikováno v:
Molecular Endocrinology. 29:1195-1218
The aberrant expression of androgen receptor (AR)-dependent transcriptional programs is a defining pathology of the development and progression of prostate cancers. Transcriptional cofactors that bind AR are critical determinants of prostate tumorige
Autor:
Vijay Kumar Eedunuri, Shrijal S. Shah, Nicholas Mitsiades, Sue Anne Chew, Bert W. O'Malley, Christopher Foley, Warren Fiskus, Cristian Coarfa, Chuandong Geng, John Shou, Junaith S. Mohamed, Kimal Rajapakshe
Publikováno v:
Molecular Endocrinology. 29:1170-1183
The p160 family of steroid receptor coactivators (SRCs) are pleiotropic transcription factor coactivators and "master regulators" of gene expression that promote cancer cell proliferation, survival, metabolism, migration, invasion, and metastasis. Ca
Structural Insights Into Thyroid Hormone Transport Mechanisms of the L-Type Amino Acid Transporter 2
Publikováno v:
Molecular endocrinology, 29(6): 933-942
Thyroid hormones (THs) are transported across cell membranes by different transmembrane transporter proteins. In previous studies, we showed marked 3,3′-diiodothyronine (3,3′-T2) but moderate T3 uptake by the L-type amino acid transporter 2 (Lat2
Autor:
Takato Mizuta, Takenobu Katagiri, Satoshi Ohte, Shoichiro Kokabu, Naoto Suda, Arei Miyamoto, Mai Fujimoto, Osawa Kenji, Sho Tsukamoto
Publikováno v:
Molecular Endocrinology. 29:140-152
Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder characterized by progressive heterotopic ossification in soft tissues, such as the skeletal muscles. FOP has been shown to be caused by gain-of-function mutations in activin receptor-l
Targeted Gene Disruption in Zebrafish Reveals Noncanonical Functions of LH Signaling in Reproduction
Publikováno v:
Molecular Endocrinology. 28:1785-1795
The pivotal role of gonadotropin signaling in regulating gonadal development and functions has attracted much research attention in the past 2 decades. However, the precise physiological role of gonadotropin signaling is still largely unknown in fish