Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients
about
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionCdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in miceBoc modifies the spectrum of holoprosencephaly in the absence of Gas1 functionExpression analysis of candidate genes regulating successional tooth formation in the human embryoThe teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.Solution structure and biophysical characterization of the multifaceted signalling effector protein growth arrest specific-1.Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactionsNODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.Growth arrest specific 1 (GAS1) is abundantly expressed in the adult mouse central nervous systemRescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.GAS1 is present in the cerebrospinal fluid and is expressed in the choroid plexus of the adult rat.GAS1 induces cell death through an intrinsic apoptotic pathway.Boc and Gas1 each form distinct Shh receptor complexes with Ptch1 and are required for Shh-mediated cell proliferationGenetic interactions between the hedgehog co-receptors Gas1 and Boc regulate cell proliferation during murine palatogenesis.The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.BOC is a modifier gene in holoprosencephaly.Multiple roles of Sonic Hedgehog in the developing human cortex are suggested by its widespread distribution.Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.Perfil de habilidades do desenvolvimento em crianças com holoprosencefalia e holoprosencefalia like
P2860
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P2860
Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients
description
2010 nî lūn-bûn
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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
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name
Holoprosencephaly and holopros ...... ort of four Brazilian patients
@ast
Holoprosencephaly and holopros ...... ort of four Brazilian patients
@en
Holoprosencephaly and holopros ...... ort of four Brazilian patients
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type
label
Holoprosencephaly and holopros ...... ort of four Brazilian patients
@ast
Holoprosencephaly and holopros ...... ort of four Brazilian patients
@en
Holoprosencephaly and holopros ...... ort of four Brazilian patients
@nl
prefLabel
Holoprosencephaly and holopros ...... ort of four Brazilian patients
@ast
Holoprosencephaly and holopros ...... ort of four Brazilian patients
@en
Holoprosencephaly and holopros ...... ort of four Brazilian patients
@nl
P2093
P356
P1476
Holoprosencephaly and holopros ...... ort of four Brazilian patients
@en
P2093
Adriana Nascimento
Claudia Pereira Bertolacini
Rodrigo Gonçalves Quiezi
P304
P356
10.1002/AJMG.A.33466
P407
P577
2010-07-01T00:00:00Z