Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
about
Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome familyIdentification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaDigenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier geneAxenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25Pituitary transcription factors: from congenital deficiencies to gene therapyFoxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 geneFamilial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.Human PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells.Glaucoma genetics, present and future.Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function.Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsMissense mutations of human homeoboxes: A review.PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3.A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development.The canonical Wnt signaling antagonist DKK2 is an essential effector of PITX2 function during normal eye development.MEIS1 p.R272H in familial restless legs syndromeGlaucoma genetics.Signaling "cross-talk" is integrated by transcription factors in the development of the anterior segment in the eye.A novel PITX2 mutation causing iris hypoplasia.A complex regulatory network of transcription factors critical for ocular development and disease.Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development.Exclusion of PITX2 mutations as a major cause of CHARGE association.Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
P2860
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P2860
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@ast
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@en
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@en-gb
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@nl
type
label
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@ast
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@en
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@en-gb
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@nl
prefLabel
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@ast
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@en
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@en-gb
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@nl
P2093
P356
P1476
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
@en
P2093
E V Semina
K Kozlowski
M A Walter
W G Pearce
P304
P356
10.1093/HMG/7.7.1113
P407
P577
1998-07-01T00:00:00Z