Results 141 to 150 of about 123,315 (302)

Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.

, 2007
The receptors for follitropin (FSHR), thyrotropin (TSHR), and lutropin/chorionic gonadotropin (LHCGR) are the members of the glycoprotein hormone (GPH) receptors (GPHR) family.
Idil, Mehmet, Anne De Leener, Erkan, Sanly, Costagliola, Sabine, Caltabiano, Gianluigi, Sabine Costagliola, Mehmet Idil, De Leener, Anne, Pardo, Leonardo, Sanly Erkan, Leonardo Pardo, Vassart, Gilbert, Gianluigi Caltabiano, Gilbert Vassart   +13 more
core   +1 more source

Case Report: Pancreatic Paraganglioma Mimicking a Well‐Differentiated Neuroendocrine Tumor: The Importance of Cytokeratin Immunohistochemistry

Diagnostic Cytopathology, EarlyView.
ABSTRACT Paragangliomas (PGLs) are uncommon neuroendocrine tumors most commonly found in the head and neck that originate from neural crest cells. Primary pancreatic paraganglioma is exceedingly rare and has largely been described in case reports and small case series. We present the case of a 79‐year‐old woman with an incidental pancreatic head lesion
Tanner Storozuk, Marc Vecchio
wiley   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Cancer risks in LKB1 germline mutation carriers

, 2006
Background and aims: Germline mutations in the LKB1 gene are known to cause Peutz-Jeghers syndrome, which is an autosomal dominant disorder characterised by hamartomatous polyposis and mucocutaneous pigmentation.
Guanti G, Mehenni H, Park JG, Miyaki M, RESTA, Nicoletta, Costanza MC   +5 more
core   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.

PLoS ONE
Genetic analyses were conducted on tumor samples from 88 patients with uveal melanoma (UM), 6 of whom carry pathogenic germline variants in BAP1. We assessed the frequency, pattern, and prognostic significance of somatic aberrations, and investigated ...
Karin A W Wadt, Katja Harbst, Mette M B Sjøl, Frida Rosengren, Christina Westmose Yde, Kristoffer Staal Rohrberg, Marlene Richter Jensen, Steffen Heegaard, Jens Folke Kiilgaard, Anne-Marie Gerdes, Nicholas Hayward, Göran B Jönsson   +11 more
doaj   +1 more source

Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations.

, 2000
Germline mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. An incidence of 5% and 3.3% respectively has been reported of BRCA1 and BRCA2 mutations in women with ovarian cancer unselected for family history.
Lau, S, Khoo, US, Cheung, AN, Ozcelik, H, Chan, VW, Lu, J, Andrulis, IL, Chan, KY, Ngan, HY   +8 more
core  

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Expert consensus on population-based BRCA germline mutation screening in China (2024 edition)

Zhongguo aizheng zazhi
Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can ...
Anti-Cancer Association Tumor Biomarker Professional Committee China, Anti-Cancer Association Tumor Biomarker Professional Committee Shanghai   +1 more
doaj