| scholarly article | Q13442814 |
| P50 | author | Hannes Lohi | Q11861362 |
| Perttu Permi | Q23039938 | ||
| Saija Ahonen | Q60147312 | ||
| Maria Kaukonen | Q64910509 | ||
| Marjo K Hytönen | Q88132378 | ||
| P2093 | author name string | Maarit Hellman | |
| Tom Glaser | |||
| Seppo Lemberg | |||
| Sean Woods | |||
| P2860 | cites work | Anophthalmia and microphthalmia | Q21202957 |
| Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein | Q22009504 | ||
| Genome sequence, comparative analysis and haplotype structure of the domestic dog | Q22122465 | ||
| 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 | ||
| Heterozygous mutations of OTX2 cause severe ocular malformations | Q24530768 | ||
| One step at a time: endoplasmic reticulum-associated degradation | Q24658302 | ||
| 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 | ||
| Crystal structure of liganded and unliganded forms of bovine plasma retinol-binding protein | Q27732165 | ||
| PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects | Q28240060 | ||
| Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease | Q28261108 | ||
| Retinol binding protein and transthyretin are secreted as a complex formed in the endoplasmic reticulum in HepG2 human hepatocarcinoma cells | Q28272462 | ||
| From Levinthal to pathways to funnels | Q28300934 | ||
| Uterocalin, a lipocalin provisioning the preattachment equine conceptus: fatty acid and retinol binding properties, and structural characterization | Q28365536 | ||
| Pathways of vitamin A delivery to the embryo: insights from a new tunable model of embryonic vitamin A deficiency | Q28508206 | ||
| Impaired retinal function and vitamin A availability in mice lacking retinol-binding protein | Q28509835 | ||
| 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 | ||
| The STRA6 receptor is essential for retinol-binding protein-induced insulin resistance but not for maintaining vitamin A homeostasis in tissues other than the eye | Q28590504 | ||
| Ocular colobomata | Q34091257 | ||
| Mutations in SOX2 cause anophthalmia | Q34180637 | ||
| Vitamin A metabolism: an update | Q34591540 | ||
| National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology | Q35438112 | ||
| The genetic and molecular basis of congenital eye defects | Q35591712 | ||
| Soluble misfolded subfractions of mutant superoxide dismutase-1s are enriched in spinal cords throughout life in murine ALS models | Q35956902 | ||
| Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds | Q36098265 | ||
| Real-time analyses of retinol transport by the membrane receptor of plasma retinol binding protein | Q36639523 | ||
| Metabolism of retinol during mammalian placental and embryonic development. | Q36763121 | ||
| STRA6-catalyzed vitamin A influx, efflux, and exchange | Q37164056 | ||
| Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center | Q37483886 | ||
| NMR methods for determining disulfide-bond connectivities | Q37770158 | ||
| Animal models for metabolic, neuromuscular and ophthalmological rare diseases. | Q38089518 | ||
| Quality control: ER-associated degradation: protein quality control and beyond | Q38196654 | ||
| Environmental risk factors in congenital malformations of the eye. | Q40585521 | ||
| Oxidative folding and assembly with transthyretin are sequential events in the biogenesis of retinol binding protein in the endoplasmic reticulum | Q41411854 | ||
| Clusterin facilitates in vivo clearance of extracellular misfolded proteins | Q43583442 | ||
| Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye. | Q43746283 | ||
| Native disulfide bonds in plasma retinol-binding protein are not essential for all-trans-retinol-binding activity | Q44482665 | ||
| Biochemical basis for retinol deficiency induced by the I41N and G75D mutations in human plasma retinol-binding protein. | Q46698714 | ||
| Metabolism of the viatmin A transporting protein complex. I. Turnover studies in normal persons and in patients with chronic renal failure | Q47939960 | ||
| Characterization of the molten globule of human serum retinol-binding protein using NMR spectroscopy. | Q53591719 | ||
| In vitro interaction of fenretinide with plasma retinol-binding protein and its functional consequences | Q67546270 | ||
| Unfolding of newly made retinol-binding protein by dithiothreitol. Sensitivity to retinoids | Q70500926 | ||
| 13C NMR chemical shifts can predict disulfide bond formation | Q73255305 | ||
| Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma | Q74140483 | ||
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | eye disease | Q3041498 |
| P304 | page(s) | 2643-2652 | |
| P577 | publication date | 2018-05-01 | |
| P1433 | published in | Cell Reports | Q5058165 |
| P1476 | title | Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease | |
| P478 | volume | 23 |
| Q93114261 | A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves |
| Q61795789 | Compensatory growth renders Tcf7l1a dispensable for eye formation despite its requirement in eye field specification |
| Q91843151 | Recent insights on the role and regulation of retinoic acid signaling during epicardial development |
| Q90159989 | Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs |
| Q99711186 | The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders |
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