نتایج جستجو برای: ژن fgfr2

تعداد نتایج: 17039  

2014
Pam Siggers Gwenn-Aël Carré Debora Bogani Nick Warr Sara Wells Helen Hilton Chris Esapa Mohammad K. Hajihosseini Andy Greenfield

The secreted molecule fibroblast growth factor 9 (FGF9) plays a critical role in testis determination in the mouse. In embryonic gonadal somatic cells it is required for maintenance of SOX9 expression, a key determinant of Sertoli cell fate. Conditional gene targeting studies have identified FGFR2 as the main gonadal receptor for FGF9 during sex determination. However, such studies can be compl...

2014
Hideki Yamaguchi Miho Takanashi Nachi Yoshida Yuumi Ito Reiko Kamata Kiyoko Fukami Kazuyoshi Yanagihara Ryuichi Sakai

Diffuse-type gastric carcinomas (DGC) exhibit more aggressive progression and poorer prognosis than intestinal-type and other gastric carcinomas. To identify potential therapeutic targets, we examined protein tyrosine phosphorylation in a panel of DGC and other gastric cancer cell lines. Protein tyrosine phosphorylation was significantly enhanced or altered in DGC cell lines compared with that ...

2016
David G. Cox Elsa Curtit Gilles Romieu Pierre Fumoleau Maria Rios Hervé Bonnefoi Thomas Bachelot Patrick Soulié Christelle Jouannaud Hugues Bourgeois Thierry Petit Isabelle Tennevet David Assouline Marie-Christine Mathieu Jean-Philippe Jacquin Sandrine Lavau-Denes Ariane Darut-Jouve Jean-Marc Ferrero Carole Tarpin Christelle Lévy Valérie Delecroix Véronique Trillet-Lenoir Oana Cojocarasu Jérôme Meunier Jean-Yves Pierga Céline Faure-Mercier Hélène Blanché Mourad Sahbatou Anne Boland Delphine Bacq Céline Besse Jean-François Deleuze Iris Pauporté Gilles Thomas Xavier Pivot

Genetic polymorphisms are associated with breast cancer risk. Clinical and epidemiological observations suggest that clinical characteristics of breast cancer, such as estrogen receptor or HER2 status, are also influenced by hereditary factors. To identify genetic variants associated with pathological characteristics of breast cancer patients, a Genome Wide Association Study was performed in a ...

Journal: :American journal of medical genetics. Part A 2016
Deborah Krakow Daniel H Cohn William R Wilcox Grace J Noh Leslie J Raffel Anna Sarukhanov Margarita H Ivanova Moise Danielpour Dorothy K Grange Alison M Elliott Jonathan A Bernstein David L Rimoin Amy E Merrill Ralph S Lachman

Bent Bone Dysplasia-FGFR2 type is a relatively recently described bent bone phenotype with diagnostic clinical, radiographic, and molecular characteristics. Here we report on 11 individuals, including the original four patients plus seven new individuals with three longer-term survivors. The prenatal phenotype included stillbirth, bending of the femora, and a high incidence of polyhydramnios, p...

2016
Thomas W. Bebee Sunder Sims‐Lucas Juw Won Park Daniel Bushnell Benjamin Cieply Yi Xing Carlton M. Bates Russ P. Carstens

BACKGROUND Abnormalities in ureteric bud (UB) branching morphogenesis lead to congenital anomalies of the kidney and reduced nephron numbers associated with chronic kidney disease (CKD) and hypertension. Previous studies showed that the epithelial fibroblast growth factor receptor 2 (Fgfr2) IIIb splice variant supports ureteric morphogenesis in response to ligands from the metanephric mesenchym...

Journal: :Human molecular genetics 2004
Omar A Ibrahimi Fuming Zhang Anna V Eliseenkova Nobuyuki Itoh Robert J Linhardt Moosa Mohammadi

Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS). Unlike the majority of FGFR2 mutations, S252W and P253R AS mutations and a D321A PS mutation retain ligand-dependency and are also associated with severe limb pathology. In addition, a recently ...

2012
Ying Lin Siming Ai Chuan Chen Xialin Liu Lixia Luo Shaobi Ye Xuanwei Liang Yi Zhu Huasheng Yang Yizhi Liu

PURPOSE The purpose of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in three Chinese patients with Crouzon syndrome and to characterize the related clinical features. METHODS A single family underwent complete ophthalmic examinations, and three patients were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood col...

2014
Peng Chen Li Zhang Tujun Weng Shichang Zhang Shijin Sun Mingtao Chang Yang Li Bo Zhang Lianyang Zhang

A S252W mutation of fibroblast growth factor receptor 2 (FGFR2), which is responsible for nearly two-thirds of Apert syndrome (AS) cases, causes retarded development of the skeleton and skull malformation resulting from premature fusion of the craniofacial sutures. We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced tr...

Journal: :American journal of physiology. Renal physiology 2015
Y Ikeda I Zabbarova C M Schaefer D Bushnell W C De Groat A Kanai C M Bates

While urothelial signals, including sonic hedgehog (Shh), drive bladder mesenchyme differentiation, it is unclear which pathways within the mesenchyme are critical for its development. Studies have shown that fibroblast growth factor receptor 2 (Fgfr2) is necessary for kidney and ureter mesenchymal development. Our objective was to determine the role of Fgfr2 in bladder mesenchyme. We used Tbx1...

2017
Jamal H. Carter Catherine E. Cottrell Samantha N. McNulty Katinka A. Vigh-Conrad Stephen Lamp Jonathan W. Heusel Eric J. Duncavage

FGFR2 is recurrently amplified in 5% of gastric cancers and 1%-4% of breast cancers; however, this molecular alteration has never been reported in a primary colorectal cancer specimen. Preclinical studies indicate that several FGFR tyrosine-kinase inhibitors (TKIs), such as AZD4547, have in vitro activity against the FGFR2-amplified colorectal cell line, NCI-H716. The efficacy of these inhibito...

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