Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene
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 geneRare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and ManagementA Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humansVariants in TRIM44 Cause Aniridia by Impairing PAX6 ExpressionAxenfeld-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 therapyThe forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25Analysis 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.Long-range control of gene expression: emerging mechanisms and disruption in disease.Transdifferentiation from cornea to lens in Xenopus laevis depends on BMP signalling and involves upregulation of Wnt signallingAxenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsMissense mutations of human homeoboxes: A review.Genetics of atrial fibrillation: implications for future research directions and personalized medicine.Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.Molecular description of eye defects in the zebrafish Pax6b mutant, sunrise, reveals a Pax6b-dependent genetic network in the developing anterior chamber.PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3.The canonical Wnt signaling antagonist DKK2 is an essential effector of PITX2 function during normal eye development.A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.Glaucoma genetics.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.Axenfeld anomaly and retinal changes in Ramon syndrome: follow-up of two sibs.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.Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
P2860
Q24290824-91A33793-3327-4750-B88E-AC57D4935E75Q24300211-5C172D2F-094B-40FD-896D-8472294A01C5Q24628643-5CA54D00-F7CD-4010-B990-675AEC7EB176Q24633005-CA50B228-4730-48DD-A32E-5715AF4ED39FQ26785500-57401EC8-9703-41A0-B104-4FC33534E215Q27312146-62C3088B-6D81-410D-9150-64C9DF091015Q27321031-D5DD6ABC-CD5A-4088-BD11-32BD95681509Q28116169-B91FADE8-215D-4B1F-AC76-B4CBF1CC2239Q28250773-C48FE181-9BE1-4BBF-AF32-6C780519AA4FQ28255040-F348B49E-F933-4D18-B523-4F524DADD90CQ28273225-319F8327-65FD-4625-B0DA-88B489529716Q33249821-1B15A095-CAE4-4D4E-8CCC-7A747C30D4ADQ33508415-30EFFFE1-3D04-4990-9FD6-ADA6452592AFQ33585595-6D28FF04-8083-4F0E-988F-94166FA0E35EQ33938801-6A0F6ADF-D9BD-4C55-BB96-7A911D680EE6Q34012279-ECA6F554-3240-4427-A52D-325F90C0CD29Q34328168-C3D2C6FC-C099-4F7D-AA30-CBBBD7EEF442Q34415477-A18E3CEA-07EA-45AB-954B-822BA6CCCE0EQ34710843-3BAAC1E6-B149-4CF3-941D-7AE57F8162E0Q35005916-AC42A64F-E08A-4693-88FC-5FBABA02AA08Q35007203-B4D89C28-B9D3-41D3-BADF-1CB758920794Q35102956-26068328-A027-44CD-8777-8FEF244DB2ACQ35247724-D576334C-3B12-418D-B828-BAE4ABE304C3Q36663184-AC074ABC-EC77-48B3-A205-00E3064D15F0Q36993758-B3F7E5B8-82EB-4A17-90D7-3F067DEC35D5Q37303762-24ADC8B1-9DD0-4999-A42A-6D09257FDDFCQ38893835-64887909-C2E6-48D4-B132-AA8363C04A81Q39600052-6E07E288-38FF-418B-B201-54CE70A08DD9Q40616206-0CC52C14-8AD7-4630-AF92-DFC49991F1B7Q43825020-8A3C0B34-CDED-4992-8ACD-3F918897CB13Q50217985-CC257B9C-91EC-4192-87D0-12C837169DEFQ52037698-AF0E05DA-B8EE-4F21-9862-7054178B1803Q52117160-8EF690DC-1817-45D3-8495-22A13E3826E9Q54981073-4510E99E-1C49-43A4-A086-5DCD00236953
P2860
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունվարին 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
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@ast
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@en
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@en-gb
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@nl
type
label
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@ast
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@en
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@en-gb
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@nl
prefLabel
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@ast
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@en
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@en-gb
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@nl
P2093
P3181
P1476
Autosomal dominant iris hypopl ...... ger syndrome (RIEG/PITX2) gene
@en
P2093
E V Semina
J C Murray
J W Kalenak
W L Alward
P304
P3181
P356
10.1016/S0002-9394(99)80242-6
P407
P577
1998-01-01T00:00:00Z