| scholarly article | Q13442814 |
| P50 | author | Lihadh Al-Gazali | Q21472183 |
| Christopher A. Walsh | Q23135514 | ||
| Bassam R. Ali | Q47698761 | ||
| Ganeshwaran H Mochida | Q63616695 | ||
| Nadia Akawi | Q89090657 | ||
| P2093 | author name string | Susan M White | |
| Fuat E Canpolat | |||
| Maria José Gamundi | |||
| Josep Quilis-Esquerra | |||
| Martin Morales Sanchez | |||
| P2860 | cites work | Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption | Q22010191 |
| Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension | Q24298704 | ||
| COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps | Q24305076 | ||
| Tricellulin is a tight-junction protein necessary for hearing | Q24337885 | ||
| Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. | Q24532206 | ||
| Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement | Q24672137 | ||
| The junctional adhesion molecule 3 (JAM-3) on human platelets is a counterreceptor for the leukocyte integrin Mac-1 | Q24673214 | ||
| Interaction of junctional adhesion molecule with the tight junction components ZO-1, cingulin, and occludin | Q28139702 | ||
| Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor | Q28190701 | ||
| Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome) | Q28275139 | ||
| Novel distribution of junctional adhesion molecule-C in the neural retina and retinal pigment epithelium | Q28509369 | ||
| Spermatid differentiation requires the assembly of a cell polarity complex downstream of junctional adhesion molecule-C | Q28589240 | ||
| Expression and function of junctional adhesion molecule-C in myelinated peripheral nerves | Q28594443 | ||
| Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients | Q33832884 | ||
| Evidence for cross-reactivity of JAM-C antibodies: implications for cellular localization studies. | Q33879914 | ||
| Immunoglobulin superfamily proteins in Caenorhabditis elegans | Q33891884 | ||
| Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. | Q33932144 | ||
| Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia | Q34056160 | ||
| Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria | Q34104062 | ||
| Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing | Q34118596 | ||
| A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts | Q34151916 | ||
| Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. | Q34191705 | ||
| Junctional adhesion molecule (JAM)-C deficient C57BL/6 mice develop a severe hydrocephalus | Q34429627 | ||
| Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8 | Q34624461 | ||
| Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. | Q35432764 | ||
| Junctional adhesion molecules (JAMs): more molecules with dual functions? | Q35600846 | ||
| Schwann cell-specific JAM-C-deficient mice reveal novel expression and functions for JAM-C in peripheral nerves. | Q36018438 | ||
| Epithelial tight junctions, gene expression and nucleo-junctional interplay | Q36799008 | ||
| The role of junctional adhesion molecules in vascular inflammation | Q36831671 | ||
| JAM family and related proteins in leukocyte migration (Vestweber series). | Q36872202 | ||
| Visiting the ER: the endoplasmic reticulum as a target for therapeutics in traffic related diseases | Q36903301 | ||
| Tight junction and polarity interaction in the transporting epithelial phenotype. | Q37009129 | ||
| Organization of multiprotein complexes at cell-cell junctions | Q37118549 | ||
| Tight junctions at a glance | Q37318516 | ||
| Dynamics and functions of tight junctions | Q37671362 | ||
| Rho signaling and tight junction functions | Q37687727 | ||
| JAM-C is an apical surface marker for neural stem cells | Q42497964 | ||
| COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage | Q46132667 | ||
| Role of COL4A1 in small-vessel disease and hemorrhagic stroke | Q48591992 | ||
| Congenital Hydrocephalus-Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease | Q48785096 | ||
| Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. | Q51947912 | ||
| ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome. | Q53664366 | ||
| COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke | Q59697997 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | brain | Q1073 |
| congenital disorder | Q727096 | ||
| P304 | page(s) | 498-505 | |
| P577 | publication date | 2013-03-01 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts | |
| P478 | volume | 34 |
| Q41929093 | A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy |
| Q46165463 | Alzheimer's disease: A matter of blood-brain barrier dysfunction? |
| Q57023036 | Blood-Brain Barrier: From Physiology to Disease and Back |
| Q47707801 | Blood-brain barrier breakdown in Alzheimer disease and other neurodegenerative disorders |
| Q30355867 | Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection |
| Q48237917 | S-Palmitoylation of Junctional Adhesion Molecule C Regulates Its Tight Junction Localization and Cell Migration. |
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