Results 51 to 60 of about 26,843 (264)

Genetic Screening of Combined Pituitary Hormone Deficiency: Experience in 195 Patients [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2006
Mutations in transcription factors result in combined pituitary hormone deficiency (CPHD).A genetic screening strategy, based on endocrine and neuroradiological phenotype according to published knowledge, was applied to establish the prevalence of gene defects in each category of patients and provide a useful framework for clinicians to determine the ...
Reynaud, Rachel, Gueydan, M., Saveanu, Alexandru, Valette-Kasic, S., Enjalbert, A., Brue, Thierry, Barlier, Anne   +6 more
openaire   +3 more sources

Familial combined pituitary hormone deficiency by a mutation in PROP1: 4 of 7 brothers affected

, 2016
IntroductionPROP1 (Prophet of POUF1) mutations are the most frequent genetic cause of combined pituitary hormone deficiency, a condition associated with a deficiency or inadequate production of hormones of the anterior pituitary. The PROP1 gene encodes a
Carvalho, Davide, Coutinho, Eduarda, Lau, Eva, Lemos, Manuel Carlos, Freitas, Paula   +4 more
core   +1 more source

Amuc_1473 Links Gut Microbes to Skeletal Homeostasis and Counteracts Multifactorial Osteoporosis

Advanced Science, EarlyView.
Amuc_1473, a previously uncharacterized protein enriched in Akkermansia muciniphila‐derived extracellular vesicles, is identified as a gut–bone messenger that promotes osteogenesis and inhibits osteoclastogenesis by engaging transcriptional and translational regulators in bone cells.
Shan‐Shan Rao, Hai‐Jin Zeng, Zun Wang, Chun‐Gu Hong, Yi‐Juan Tan, Yan‐Xin Duan, Jing‐Yao Luo, Ming‐Jie Luo, Yi‐Wei Liu, Xin Wang, Yi Luo, Teng‐Fei Wan, Yong Zhou, Zheng‐Guang Wang, Guo‐Wen Hu, Hao Yin, Xin‐Yue Hu, Zhen‐Xing Wang, Ze‐Hui He, Si‐Yi Cheng, Wei Du, Zhe Guan, Hai‐Li Lang, Hong‐Ji Liu, Jia Cao, Peng Chen, Jiang‐Hua Liu, Hui Xie, Chun‐Yuan Chen   +28 more
wiley   +1 more source

Lactation is Associated with Accelerated Postpartum Pelvic Floor Muscle Recovery in a Pregnant Simulated Birth Injury Model

Advanced Science, EarlyView.
ABSTRACT Healthy pelvic floor muscles (PFMs) are essential for proper pelvic floor function. The biggest risk factor for PFM dysfunction is injury sustained during vaginal childbirth, yet the factors that facilitate or impair PFM recovery from birth injury remain unknown.
Bianca L. Peña, Khushi M. Diwakar, Hillary K. Tran, Selena Cao, Celeste E. Lintz, Laila N. Hayes, Marianna Alperin, Karen L. Christman   +7 more
wiley   +1 more source

Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? [PDF]

Clinical Endocrinology, 2005
SummaryThe past 12 years have witnessed an explosion in our understanding of the development of the anterior pituitary gland, and of mechanisms that underlie the diagnosis of growth hormone deficiency (GHD) and combined pituitary hormone deficiency (CPHD).
openaire   +2 more sources

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency

, 2019
The genetic causes of combined pituitary hormone deficiency remain elusive in most patients. Recently, incompletely penetrant heterozygous mutations in ROBO1 have been described in patients with pituitary stalk interruption syndrome.
Hiroyuki Moriuchi, Watanabe, Satoshi, Minoru Morikawa, Koh-ichiro Yoshiura, Shirakawa, Toshihiko, Toshihiko Shirakawa, Kinoshita, Eiichi, Dateki, Sumito, Mishima, Hiroyuki, Morikawa, Minoru, Hiroyuki Mishima, Eiichi Kinoshita, Sumito Dateki, Satoshi Watanabe, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki   +15 more
core   +1 more source

Fosl2 Regulates FSH‐Dependent Follicle Maturation Through Feedback Amplification of FSH/FSHR Signaling

Advanced Science, EarlyView.
This study identifies a FOSL2‐driven positive feedback loop that amplifies FSH/FSHR signaling. During FSH‐dependent follicle maturation, FSH induces Fosl2 expression via the cAMP‐PKA‐CREB cascade. FOSL2 in turn binds the promoters of Fshr and estrogen‐biosynthesis genes to enhance their transcription, thereby increasing Fshr mRNA level and amplifying ...
Hongru Shi, Chaoli Chen, Zaohong Ran, Jianning Liao, Zian Wu, Xiaodong Wang, Yongheng Zhao, Wenkai Ke, Bowen Tan, Yun Liu, Youqiang Su, Wei Ren, Xiang Li, Changjiu He   +13 more
wiley   +1 more source

Genetic and non-genetic causes of Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency: Results of the HYPOPIT study [PDF]

, 2008
Hypopituitarism, the deficiency of one or more pituitary hormones, causes stunted growth and severe health problems. Understanding the etiology of pituitary hormone deficiencies is important for anticipation of clinical problems, for genetic counselling ...
Graaff, L.C.G. (Laura) de, de Graaff, Laura; id_orcid   +1 more
core  

Paternal Caffeine Exposure Programs Offspring Stress Vulnerability via Sperm Dlk1‐Dio3 Imprinting‐Directed Remodeling of a Novel Neural Circuit

Advanced Science, EarlyView.
The study elucidates that paternal preconception stress can drive offspring hyperresponsivity of the stress system via hypomethylation of a specific DNA region in sperm. This key link is confirmed in a cohort of prospective fathers: the epigenetic alteration is associated with elevated stress hormone levels.
Mengxi Lu, Gaole Dai, Sen Zhu, Shuai Zhang, Tingting Wang, Yuan Meng, Fang Yang, Xiaoyi Han, Hui Wang, Hao Kou, Dan Xu   +10 more
wiley   +1 more source

Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).

, 1998
As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in the development and organogenesis of this gland may account for a form of combined pituitary hormone deficiency (CPHD).
Wu, W., Mullis, P. E., Deladoey, J., Flück, Christa, Eblé, A., Marti, U., Rutishauser, K.   +6 more
core   +1 more source