Zobrazeno 1 - 10
of 3 077
pro vyhledávání: '"Gnas"'
Autor:
Trent Newman, Donna M. Bond, Teruhito Ishihara, Phoebe Rizzoli, Quentin Gouil, Timothy A. Hore, Geoff Shaw, Marilyn B. Renfree
Publikováno v:
Epigenetics & Chromatin, Vol 17, Iss 1, Pp 1-21 (2024)
Abstract Background Genomic imprinting results in parent-of-origin-specific gene expression and, among vertebrates, is found only in therian mammals: marsupials and eutherians. A differentially methylated region (DMR), in which the methylation status
Externí odkaz:
https://doaj.org/article/061d1a17d2ae438787b7cc04888fca66
Autor:
Ioana Balinisteanu, Lavinia Caba, Andreea Florea, Roxana Popescu, Laura Florea, Maria-Christina Ungureanu, Letitia Leustean, Eusebiu Vlad Gorduza, Cristina Preda
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 8, Pp 9093-9121 (2024)
Acromegaly is a rare endocrine disorder characterized by the excessive production of growth hormone (GH) in adulthood. Currently, it is understood that certain pituitary neuroendocrine tumors (PitNETs) exhibit a hereditary predisposition. These tumor
Externí odkaz:
https://doaj.org/article/b53c9e28ccd7456c81452098d88c379b
Publikováno v:
Cancer Biology & Medicine, Vol 21, Iss 7, Pp 586-605 (2024)
Pseudomyxoma peritonei (PMP) is an indolent malignant syndrome. The standard treatment for PMP is cytoreductive surgery combined with intraperitoneal hyperthermic chemotherapy (CRS + HIPEC). However, the high recurrence rate and latent clinical sympt
Externí odkaz:
https://doaj.org/article/f2cf9c123c7b449ea09c12dc34328c51
Autor:
Hu Wei, Ze Min Chen, Xiu Fen Xue, Li Xia Xi, Gen Hua Yang, Zhi Yong Zhai, Zhao Yu Huang, Ping Zhou, Chong Ju Bao, Li Juan You, Mei Ping Ou Yang, Gui Li Xia, Zhi Yu Zeng, Xiao Bing Cui, Xiao Juan Pei, Wei Gong
Publikováno v:
Cancer Medicine, Vol 13, Iss 19, Pp n/a-n/a (2024)
ABSTRACT Background Gastric adenocarcinoma of the fundic gland type (GA‐FG) is a newly described variant of gastric adenocarcinoma with lack of knowledges regarding its genetic features. Methods We performed whole‐genome sequencing (WGS) in forma
Externí odkaz:
https://doaj.org/article/5cba0cf4d0174440907fea518a73f762
Publikováno v:
Diabetes, Metabolic Syndrome and Obesity, Vol Volume 17, Pp 2021-2026 (2024)
Jie Liu, Lijuan Lu, Yu Wei, Yu Li, Qiong Wang, Lei Yu, Langen Zhuang, Guoxi Jin, Xiaoyan Pei Department of Endocrinology, the First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui Province, People’s Republic of ChinaCorrespondence:
Externí odkaz:
https://doaj.org/article/216985a96aa64ae9af5b81515979b809
Autor:
Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background Pseudohypoparathyroidism (PHP) is caused by loss-of-function mutations at the GNAS gene (as in the PHP type 1A; PHP1A), de novo or inherited at heterozygous state, or by epigenetic alterations at the GNAS locus (as in the PHP1B).
Externí odkaz:
https://doaj.org/article/b3347a76c4a2470bb7a3e070a6b215ba
Akademický článek
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Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundThere is inconsistent evidence regarding the accuracy of GNAS mutations identification for the diagnosis of FD/MAS. This study was performed to estimate the prevalence and diagnostic accuracy of GNAS mutations detection and to preliminarily
Externí odkaz:
https://doaj.org/article/4702be4bb8e24fce80f34aa18041b866
Publikováno v:
Open Life Sciences, Vol 19, Iss 1, Pp e230104-73 (2024)
Pseudohypoparathyroidism (PHP) type 1a (PHP 1a) is a rare hereditary disorder characterized by target organ resistance to hormonal signaling and the Albright hereditary osteodystrophy (AHO) phenotype, which features round facial features, short finge
Externí odkaz:
https://doaj.org/article/949db29a62f5475e9bea769f0ebc65ac
Autor:
Francesca Marta Elli, Deborah Mattinzoli, Masami Ikehata, Francesca Bagnaresi, Maria A. Maffini, Giulia Del Sindaco, Angela Pagnano, Camilla Lucca, Piergiorgio Messa, Maura Arosio, Giuseppe Castellano, Carlo M. Alfieri, Giovanna Mantovani
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionThe dysregulation of cell fate toward osteoprecursor cells associated with most GNAS-based disorders may lead to episodic de novo extraskeletal or ectopic bone formation in subcutaneous tissues. The bony lesion distribution suggests the i
Externí odkaz:
https://doaj.org/article/2b1d3cc52c6146f4bf19cd8ada8180c6