Zobrazeno 1 - 10
of 1 357
pro vyhledávání: '"GNAS complex locus"'
Autor:
Preamrudee Poomthavorn, Thipwimol Tim-Aroon, Kinnaree Sorapipatcharoen, Somboon Wankanit, Pat Mahachoklertwattana
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 14:485-489
Pseudohypoparathyroidism type 1A (PHP1A) is a disorder of multiple hormone resistance, mainly parathyroid hormone. It is associated with Albright hereditary osteodystrophy phenotypes. Patients with PHP1A may initially present with hypothyroidism duri
Autor:
Filip Marek, Karel Stary, Tomáš Andrašina, Martina Zapletalová, Karel Máca, Jan Lochman, Lumir Kunovsky, David Said, Jitka Vaculová, Hana Nosková, Zdenek Kala, Petra Borilova Linhartova, Tereza Nesporova, Dolina J, Ondrej Slaby, Lydie Izakovičová Hollá, Petr Jabandziev, Radek Kroupa
Publikováno v:
Biomedical Papers. 166:228-235
Background: Acromegaly is a disorder associated with hypersecretion of growth hormone, most usually caused by a pituitary adenoma. Dysmotility of the gastrointestinal tract has been reported in acromegalic patients. Achalasia is a disorder characteri
Autor:
Buyan-Ochir Orgil, Deli Dong, Brianna Cathey, Dennis Black, Jeffrey A. Towbin, Joseph F. Pierre, Lu Lu, Jaclyn A. Brennan, Qingqing Gu, Fuyi Xu, Igor R. Efimov, Neely R Alberson, Zaza Khuchua, Undral Munkhsaikhan, Jason N. Johnson, Enkhsaikhan Purevjav
Publikováno v:
Physiological Genomics
Broad cellular functions and diseases including muscular dystrophy, arrhythmogenic right ventricular cardiomyopathy (ARVC5) and cancer are associated with transmembrane protein43 (TMEM43/ LUMA). The study aimed to investigate biological roles of TMEM
Autor:
Mary Garland-Kledzik, Javier I. J. Orozco, Trevan D Fischer, Juan A. Santamaria-Barria, Alessio Pigazzi, Diego M. Marzese, Miquel Ensenyat-Mendez, Anthony J Scholer, Adam Khader
Publikováno v:
Annals of Surgical Oncology. 29:2118-2125
PURPOSE Appendiceal cancer is a rare disease process with complex treatment strategies. The objective of this study was to identify mutation-based genetic subtypes that may differ from the current histological classification, compare the genetic make
Autor:
Aliki Perdikari, Jacek Mokrosinski, Tabitha Randell, I. Sadaf Farooqi, Sharon Lim, Fleur Talbot, Rebecca Bounds, Melanie Kershaw, Deepthi Jyothish, Edson Mendes de Oliveira, Tim Cheetham, Antoinette McAulay, Vikram Ayinampudi, Elizabeth C Crowne, Inês Barroso, Peter T Clayton, Praveen Partha, Cristina Matei, Sanjay Gupta, Louise C Wilson, Elana Henning, Keogh Jm, Rachel Ahmed, Natalia Wasiluk
Publikováno v:
New England Journal of Medicine. 385:1581-1592
Background GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. GNAS mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albri
Autor:
Takeshi Nishikawa, Masayuki Sho, Hiroe Itami, Tomomi Fujii, Hitoshi Yoshiji, Chiho Ohbayashi, Maiko Takeda, Yoko Sekita-Hatakeyama, Tomoko Uchiyama, Akira Mitoro, Kouhei Morita, Kinta Hatakeyama, Masayoshi Sawai
Publikováno v:
Cancer Cytopathology. 130:202-214
Background Liquid-based cytology (LBC) is a widely used method for processing specimens obtained by endoscopic biopsy. This study evaluated next-generation sequencing (NGS) analysis of LBC specimens to improve the diagnostic accuracy of pancreatic le
Autor:
Zentaro Kiuchi, Harald Jüppner, Patrick Hanna, Robert C. Olney, Peter J. Tebben, Terry DeClue, Monica Reyes, Anu Sharma
Publikováno v:
J Clin Endocrinol Metab
Context Maternally inherited STX16 deletions that cause loss of methylation at GNAS exon A/B and thereby reduce Gsα expression are the most frequent cause of autosomal dominant pseudohypoparathyroidism type Ib (AD-PHP1B). Early identification of the
Autor:
Dana J. Ramms, J. Silvio Gutkind, Francesco Raimondi, Friedrich W. Herberg, Nadia Arang, Susan S. Taylor
Publikováno v:
Pharmacological Reviews. 73:1326-1368
Many of the fundamental concepts of signal transduction and kinase activity are attributed to the discovery and crystallization of cAMP-dependent protein kinase, or protein kinase A. PKA is one of the best-studied kinases in human biology, with empha
Autor:
Morgan N Cash, James M. Luther, Adina F. Turcu, Chia Jen Liu, Thomas J. Giordano, Jessie Hoxie, Kazutaka Nanba, Lan L. Gellert, Aaron M. Udager, William E. Rainey, Tobias Else, Juilee Rege
Publikováno v:
J Clin Endocrinol Metab
ContextSomatic gene mutations have been identified in only about half of cortisol-producing adenomas (CPAs). Affected genes include PRKACA, GNAS, PRKAR1A, and CTNNB1.ObjectiveThis work aims to expand our understanding of the prevalence of somatic mut
APC mutations are common in adenomas but infrequent in adenocarcinomas of the non-ampullary duodenum
Autor:
Taiki Hashimoto, Shigeki Sekine, Masashi Kudo, Naoto Gotohda, Ichiro Oda, Takeshi Kuwata, Tomoaki Naka, Motohiro Kojima, Satoru Nonaka, Takaki Yoshikawa, Minoru Esaki, Yasushi Yatabe, Teruhiko Yoshida, Kenichi Ishizu
Publikováno v:
Journal of Gastroenterology. 56:988-998
Recent studies highlighted the clinicopathological heterogeneity of non-ampullary duodenal adenomas and adenocarcinomas, but the detailed process of the malignant transformation remains unclear. We analyzed 144 adenomas and 54 adenocarcinomas of the