Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice
نویسندگان
چکیده
منابع مشابه
Short stature of prenatal origin: craniofacial growth and dental maturation.
Recently, children born small for gestational age (SGA) with a catch-up growth failure, have been selected for high dose growth hormone (GH) treatment. In order to gain greater insight concerning dentofacial growth and maturation of these patients, and to evaluate the possible effects of high does GH administration on facial structures, craniofacial growth and dental maturation were evaluated i...
متن کاملThe Role of Fgfr2 Isoforms and Frem1 in Craniofacial Development
OBJECTIVES: 1) To determine whether the Fgfr2 mutant results in the generation of additional isoforms and 2) to characterize the spatial and temporal expression of Frem1 in the developing mid-face of WT mice. METHODS: Polymerase chain reaction using primers specific to different parts of the Fgfr2 gene and gel electrophoresis were performed to compare observed with expected band sizes in WT and...
متن کاملPrenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.
Crouzon Syndrome is an autosomal dominant syndromic craniosynostosis characterized by premature closure of cranial sutures, exophthalmos, and midface hypoplasia. It is caused by multiple mutations in the fibroblast growth factor receptor 2 (FGFR2). We describe prenatal genetic testing of FGFR2 in a fetus of a mother whose previous child had Crouzon Syndrome due to an apparently de novo mutation...
متن کاملLaminar Organization of Cerebral Cortex in Transforming Growth Factor Beta Mutant Mice
Transforming growth factor betas (TGF?s) are one of the most widespread and versatile cytokines. The three mammalian TGF? isoforms, ?1, ?2, and ?3, and their receptors regulate proliferation of neuronal precursors as well as survival and differentiation in neurons of developing and adult nervous system. Functions of TGF?s has a wide spectrum ranging from regulating cell proliferation and differ...
متن کاملBiochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.
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 ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Developmental Biology
سال: 2014
ISSN: 1471-213X
DOI: 10.1186/1471-213x-14-8