Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease

scientific article

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.CELL.2015.03.006
P932PMC publication ID4409664
P698PubMed publication ID25910211
P5875ResearchGate publication ID275355449

P2093author name stringChristine Nelson
Adele Schneider
Tanya Bardakjian
Tom Glaser
Jonathan T Pribila
Susan A Tarlé
Sean Woods
Christopher M Chou
P2860cites workBiochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding proteinQ22009504
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationQ24295098
Engineered epidermal growth factor mutants with faster binding on-rates correlate with enhanced receptor activationQ24298119
The lipocalin protein family: structure and functionQ24529878
Membrane lipids: where they are and how they behaveQ24653084
High-resolution structures of retinol-binding protein in complex with retinol: pH-induced protein structural changes in the crystal stateQ27641389
Crystallographic refinement of human serum retinol binding protein at 2A resolutionQ27676232
Crystal structure of the trigonal form of human plasma retinol-binding protein at 2.5 A resolutionQ27732129
Merlin--rapid analysis of dense genetic maps using sparse gene flow treesQ27860829
Plasma retinol binding protein: structure and function of the prototypic lipocalinQ28142676
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeQ28247493
A membrane receptor for retinol binding protein mediates cellular uptake of vitamin AQ28285192
Pathways of vitamin A delivery to the embryo: insights from a new tunable model of embryonic vitamin A deficiencyQ28508206
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 retinaQ28581420
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligandQ28609661
Biochemical basis for depressed serum retinol levels in transthyretin-deficient miceQ31470358
Ocular colobomataQ34091257
Mutations in SOX2 cause anophthalmiaQ34180637
Retinol-binding protein: the transport protein for vitamin A in human plasmaQ34278411
Dark adaptation and the retinoid cycle of visionQ34324524
Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalitiesQ34494040
Vitamin A metabolism: an updateQ34591540
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 pathwaysQ35213322
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiologyQ35438112
Genome-wide association study of circulating retinol levelsQ35532911
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Q35788558
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaQ36595128
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasmQ37045101
Keeping an eye on retinoic acid signaling during eye developmentQ37107380
STRA6-catalyzed vitamin A influx, efflux, and exchangeQ37164056
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 DevelopmentQ37778487
The genetic architecture of microphthalmia, anophthalmia and colobomaQ38214549
A retinol-binding protein receptor-mediated mechanism for uptake of vitamin A to postimplantation rat embryosQ38342754
An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphismQ38631656
Maternal transmission of congenital heart diseases: new recurrence risk figures and the questions of cytoplasmic inheritance and vulnerability to teratogensQ39802618
Oxidative folding and assembly with transthyretin are sequential events in the biogenesis of retinol binding protein in the endoplasmic reticulumQ41411854
Ligand-dependent secretion of rat retinol-binding protein expressed in HeLa cellsQ41619272
The interaction between retinol-binding protein and transthyretin analyzed by fluorescence anisotropyQ43019575
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmiaQ43691780
Studies on the Interaction Between Prealbumin, Retinol-binding Protein, and Vitamin AQ43879297
Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancyQ44637267
Retinoic acid in development: towards an integrated viewQ46549138
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 homeostasisQ46776303
Transplacental delivery of retinoid: the role of retinol-binding protein and lipoprotein retinyl esterQ47250382
Mutations designed to destabilize the receptor-bound conformation increase MICA-NKG2D association rate and affinityQ47597641
Studies on the Protein-Protein and Protein-Ligand Interactions Involved in Retinol Transport in PlasmaQ47670588
Developmental expression pattern of Stra6, a retinoic acid-responsive gene encoding a new type of membrane proteinQ48050043
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 proteinsQ52851433
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 proteinQ57136297
Characterization of chylomicron remnant clearance by retinyl palmitate label in normal humansQ68027779
The binding stoichiometry of human plasma retinol-binding protein to prealbuminQ68796311
Regulation of retinol-binding protein metabolism by vitamin A status in the ratQ70357148
Retinoid binding to retinol-binding protein and the interference with the interaction with transthyretinQ71099598
An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestationQ73088380
Retinoid binding proteins in mouse yolk sac and chorio-allantoic placentasQ73438587
TISSUE DISTRIBUTION AND METABOLISM OF NEWLY ABSORBED VITAMIN A IN THE RATQ78521283
INHERITANCE OF DIRECTION OF COILLING IN LIMNAEAQ81202876
Congenital malformations induced in rats by maternal vitamin A deficiency; defects of the eyeQ82141245
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectcongenital disorderQ727096
eye diseaseQ3041498
P304page(s)634-46
P577publication date2015-04-23
P1433published inCellQ655814
P1476titleBiochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease
P478volume161

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cites work (P2860)
Q38944874Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature
Q46529868Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
Q91651868Genetics and functions of the retinoic acid pathway, with special emphasis on the eye
Q89595747Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes
Q59695970Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.
Q47100462Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
Q58606293Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia
Q91843151Recent insights on the role and regulation of retinoic acid signaling during epicardial development
Q37462838Retinoids and Retinal Diseases
Q39045655The Lipocalin LPR-1 Cooperates with LIN-3/EGF Signaling To Maintain Narrow Tube Integrity in Caenorhabditis elegans
Q92642653The Molecular Basis of Human Anophthalmia and Microphthalmia
Q42386094Transport of vitamin A across blood-tissue barriers is facilitated by STRA6.
Q26783584Vitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6

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