Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
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Anophthalmia and microphthalmiaMonoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsGenomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsMutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesViral infection and human disease--insights from minimotifsVitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6STRA6: role in cellular retinol uptake and effluxInput overload: Contributions of retinoic acid signaling feedback mechanisms to heart development and teratogenesisSignaling through retinoic acid receptors in cardiac development: Doing the right things at the right timesIs retinol binding protein 4 a link between adiposity and cancer?Retina, retinol, retinal and the natural history of vitamin A as a light sensorLower urinary tract development and diseaseThe neural crest in cardiac congenital anomaliesLoss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceNew Insights into Congenital Diaphragmatic Hernia - A Surgeon's Introduction to CDH Animal Models.Structure of the STRA6 receptor for retinol uptakeEnzymatic Metabolism of Vitamin A in Developing Vertebrate EmbryosFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeBiochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye DiseaseRetinoid content, visual responses, and ocular morphology are compromised in the retinas of mice lacking the retinol-binding protein receptor, STRA6A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndromeA trans-acting protein effect causes severe eye malformation in the Mp mouseLiver retinol transporter and receptor for serum retinol-binding protein (RBP4)Vitamin A transport and the transmembrane pore in the cell-surface receptor for plasma retinol binding proteinAcidic retinoids synergize with vitamin A to enhance retinol uptake and STRA6, LRAT, and CYP26B1 expression in neonatal lungThe STRA6 receptor is essential for retinol-binding protein-induced insulin resistance but not for maintaining vitamin A homeostasis in tissues other than the eyeAdaptive evolution of the STRA6 genes in mammalianNon-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneStra6, a retinoic acid-responsive gene, participates in p53-induced apoptosis after DNA damage.Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic herniaISL1 directly regulates FGF10 transcription during human cardiac outflow formation.ALDH1A2 (RALDH2) genetic variation in human congenital heart disease.A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.A male with unilateral microphthalmia reveals a role for TMX3 in eye developmentPhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Genetic aspects of human congenital diaphragmatic hernia.Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.The retinal pigment epithelium in health and diseaseRetinal degeneration in animal models with a defective visual cycle.Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.
P2860
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P2860
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
description
2007 nî lūn-bûn
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2007 թուականի Մարտին հրատարակուած գիտական յօդուած
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2007 թվականի մարտին հրատարակված գիտական հոդված
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2007年の論文
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2007年論文
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2007年論文
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2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
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name
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@ast
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@en
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@en-gb
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
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type
label
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@ast
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@en
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@en-gb
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@nl
prefLabel
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@ast
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@en
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@en-gb
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
Mutations in STRA6 cause a bro ...... plasia, and mental retardation
@en
P2093
Anne Slavotinek
Christian Becker
David Chitayat
Francesca Pasutto
Frank Brasch
Gerhard Hammersen
Gunnar Houge
Heidemarie Schirmer-Zimmermann
John L Tolmie
Lorena Fernández-Martínez
P2860
P304
P3181
P356
10.1086/512203
P407
P50
P577
2007-03-01T00:00:00Z