scholarly article | Q13442814 |
P2093 | author name string | Christine Nelson | |
Adele Schneider | |||
Tanya Bardakjian | |||
Tom Glaser | |||
Jonathan T Pribila | |||
Susan A Tarlé | |||
Sean Woods | |||
Christopher M Chou | |||
P2860 | cites work | Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein | Q22009504 |
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation | Q24295098 | ||
Engineered epidermal growth factor mutants with faster binding on-rates correlate with enhanced receptor activation | Q24298119 | ||
The lipocalin protein family: structure and function | Q24529878 | ||
Membrane lipids: where they are and how they behave | Q24653084 | ||
High-resolution structures of retinol-binding protein in complex with retinol: pH-induced protein structural changes in the crystal state | Q27641389 | ||
Crystallographic refinement of human serum retinol binding protein at 2A resolution | Q27676232 | ||
Crystal structure of the trigonal form of human plasma retinol-binding protein at 2.5 A resolution | Q27732129 | ||
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees | Q27860829 | ||
Plasma retinol binding protein: structure and function of the prototypic lipocalin | Q28142676 | ||
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype | Q28247493 | ||
A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A | Q28285192 | ||
Pathways of vitamin A delivery to the embryo: insights from a new tunable model of embryonic vitamin A deficiency | Q28508206 | ||
The temporal requirement for vitamin A in the developing eye: mechanism of action in optic fissure closure and new roles for the vitamin in regulating cell proliferation and adhesion in the embryonic retina | Q28581420 | ||
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand | Q28609661 | ||
Biochemical basis for depressed serum retinol levels in transthyretin-deficient mice | Q31470358 | ||
Ocular colobomata | Q34091257 | ||
Mutations in SOX2 cause anophthalmia | Q34180637 | ||
Retinol-binding protein: the transport protein for vitamin A in human plasma | Q34278411 | ||
Dark adaptation and the retinoid cycle of vision | Q34324524 | ||
Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities | Q34494040 | ||
Vitamin A metabolism: an update | Q34591540 | ||
A multiple splitting approach to linkage analysis in large pedigrees identifies a linkage to asthma on chromosome 12. | Q34990618 | ||
Uptake of dietary retinoids at the maternal-fetal barrier: in vivo evidence for the role of lipoprotein lipase and alternative pathways | Q35213322 | ||
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology | Q35438112 | ||
Genome-wide association study of circulating retinol levels | Q35532911 | ||
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6 | Q35788558 | ||
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia | Q36595128 | ||
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm | Q37045101 | ||
Keeping an eye on retinoic acid signaling during eye development | Q37107380 | ||
STRA6-catalyzed vitamin A influx, efflux, and exchange | Q37164056 | ||
Retinoic acid signaling in development: tissue-specific functions and evolutionary origins. | Q37323737 | ||
Retinol-binding protein and transthyretin mRNA levels in visceral yolk sac and liver during fetal development in the rat. | Q37401388 | ||
VITAMIN A DEFICIENCY AND NIGHT BLINDNESS. | Q37618030 | ||
Eye Development | Q37778487 | ||
The genetic architecture of microphthalmia, anophthalmia and coloboma | Q38214549 | ||
A retinol-binding protein receptor-mediated mechanism for uptake of vitamin A to postimplantation rat embryos | Q38342754 | ||
An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphism | Q38631656 | ||
Maternal transmission of congenital heart diseases: new recurrence risk figures and the questions of cytoplasmic inheritance and vulnerability to teratogens | Q39802618 | ||
Oxidative folding and assembly with transthyretin are sequential events in the biogenesis of retinol binding protein in the endoplasmic reticulum | Q41411854 | ||
Ligand-dependent secretion of rat retinol-binding protein expressed in HeLa cells | Q41619272 | ||
The interaction between retinol-binding protein and transthyretin analyzed by fluorescence anisotropy | Q43019575 | ||
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia | Q43691780 | ||
Studies on the Interaction Between Prealbumin, Retinol-binding Protein, and Vitamin A | Q43879297 | ||
Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy | Q44637267 | ||
Retinoic acid in development: towards an integrated view | Q46549138 | ||
Biochemical basis for retinol deficiency induced by the I41N and G75D mutations in human plasma retinol-binding protein. | Q46698714 | ||
Megalin-mediated reuptake of retinol in the kidneys of mice is essential for vitamin A homeostasis | Q46776303 | ||
Transplacental delivery of retinoid: the role of retinol-binding protein and lipoprotein retinyl ester | Q47250382 | ||
Mutations designed to destabilize the receptor-bound conformation increase MICA-NKG2D association rate and affinity | Q47597641 | ||
Studies on the Protein-Protein and Protein-Ligand Interactions Involved in Retinol Transport in Plasma | Q47670588 | ||
Developmental expression pattern of Stra6, a retinoic acid-responsive gene encoding a new type of membrane protein | Q48050043 | ||
Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. | Q50878628 | ||
A mechanism for gene-environment interaction in the etiology of congenital scoliosis. | Q51795735 | ||
Differential expression of transcripts encoding retinoid binding proteins and retinoic acid receptors during placentation of the mouse. | Q52196596 | ||
Binding affinities of retinol and related compounds to retinol binding proteins | Q52851433 | ||
Selected-fit versus induced-fit protein binding: kinetic differences and mutational analysis. | Q53529546 | ||
Characterization of the molten globule of human serum retinol-binding protein using NMR spectroscopy. | Q53591719 | ||
Release of retinol and denaturation of its plasma carrier, retinol-binding protein | Q57136297 | ||
Characterization of chylomicron remnant clearance by retinyl palmitate label in normal humans | Q68027779 | ||
The binding stoichiometry of human plasma retinol-binding protein to prealbumin | Q68796311 | ||
Regulation of retinol-binding protein metabolism by vitamin A status in the rat | Q70357148 | ||
Retinoid binding to retinol-binding protein and the interference with the interaction with transthyretin | Q71099598 | ||
An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation | Q73088380 | ||
Retinoid binding proteins in mouse yolk sac and chorio-allantoic placentas | Q73438587 | ||
TISSUE DISTRIBUTION AND METABOLISM OF NEWLY ABSORBED VITAMIN A IN THE RAT | Q78521283 | ||
INHERITANCE OF DIRECTION OF COILLING IN LIMNAEA | Q81202876 | ||
Congenital malformations induced in rats by maternal vitamin A deficiency; defects of the eye | Q82141245 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | congenital disorder | Q727096 |
eye disease | Q3041498 | ||
P304 | page(s) | 634-46 | |
P577 | publication date | 2015-04-23 | |
P1433 | published in | Cell | Q655814 |
P1476 | title | Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease | |
P478 | volume | 161 |
Q38944874 | Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature |
Q46529868 | Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. |
Q91651868 | Genetics and functions of the retinoic acid pathway, with special emphasis on the eye |
Q89595747 | Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes |
Q59695970 | Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease. |
Q47100462 | Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. |
Q58606293 | Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia |
Q91843151 | Recent insights on the role and regulation of retinoic acid signaling during epicardial development |
Q37462838 | Retinoids and Retinal Diseases |
Q39045655 | The Lipocalin LPR-1 Cooperates with LIN-3/EGF Signaling To Maintain Narrow Tube Integrity in Caenorhabditis elegans |
Q92642653 | The Molecular Basis of Human Anophthalmia and Microphthalmia |
Q42386094 | Transport of vitamin A across blood-tissue barriers is facilitated by STRA6. |
Q26783584 | Vitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6 |
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