| scholarly article | Q13442814 |
| P50 | author | Peter Nürnberg | Q2077335 |
| Franz Rüschendorf | Q30089927 | ||
| Angela Kaindl | Q56956238 | ||
| Holger Thiele | Q110770756 | ||
| P2093 | author name string | Jutta Gärtner | |
| Bernhard Weschke | |||
| Birgit Uhlenberg | |||
| Markus Schuelke | |||
| Nico Ruf | |||
| Christoph Hübner | |||
| Gisela Stoltenburg-Didinger | |||
| Haluk Topaloğlu | |||
| Fuat Aksu | |||
| Marco Henneke | |||
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| Functional expression of the new gap junction gene connexin47 transcribed in mouse brain and spinal cord neurons | Q28346574 | ||
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| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 251-260 | |
| P577 | publication date | 2004-06-10 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease | |
| P478 | volume | 75 |
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| Q34572864 | A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease |
| Q86930798 | A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32 |
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| Q30486564 | Ablation of Cx47 in transgenic mice leads to the loss of MUPP1, ZONAB and multiple connexins at oligodendrocyte-astrocyte gap junctions |
| Q58493621 | Ablation of connexin30 in transgenic mice alters expression patterns of connexin26 and connexin32 in glial cells and leptomeninges |
| Q36269130 | Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions |
| Q50185933 | Adulthood leukodystrophies |
| Q38088395 | Advances in the diagnosis of leukoencephalopathies |
| Q36411661 | Affymetrix GeneChip system: moving from research to the clinic |
| Q36481133 | Application of oligonucleotide arrays to high-content genetic analysis |
| Q60689186 | Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips |
| Q104264572 | Beneficial contribution of induced pluripotent stem cell-progeny to Connexin 47 dynamics during demyelination-remyelination |
| Q36035603 | Biological role of connexin intercellular channels and hemichannels |
| Q36422875 | Brain connexins in demyelinating diseases: therapeutic potential of glial targets |
| Q38502080 | Cell communication across gap junctions: a historical perspective and current developments |
| Q50567646 | Changes in object recognition and anxiety-like behaviour in mice expressing a Cx47 mutation that causes Pelizaeus-Merzbacher-like disease. |
| Q36098727 | Characterization of Panglial Gap Junction Networks in the Thalamus, Neocortex, and Hippocampus Reveals a Unique Population of Glial Cells |
| Q36763693 | Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment |
| Q36107147 | Connexin composition in apposed gap junction hemiplaques revealed by matched double-replica freeze-fracture replica immunogold labeling |
| Q34259105 | Connexin mutant embryonic stem cells and human diseases |
| Q30466096 | Connexin26 expression in brain parenchymal cells demonstrated by targeted connexin ablation in transgenic mice |
| Q30485962 | Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects |
| Q41011933 | Connexin43 and connexin47 alterations after neural precursor cells transplantation in experimental autoimmune encephalomyelitis. |
| Q35584623 | Connexin: a potential novel target for protecting the central nervous system? |
| Q47989343 | Connexins and Disease |
| Q30449325 | Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling |
| Q34563298 | Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract |
| Q34981186 | Deletion of oligodendrocyte Cx32 and astrocyte Cx43 causes white matter vacuolation, astrocyte loss and early mortality |
| Q28081453 | Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology |
| Q37998518 | Demyelinating prenatal and infantile developmental neuropathies |
| Q81645236 | Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR |
| Q91137037 | Directional coupling of oligodendrocyte connexin-47 and astrocyte connexin-43 gap junctions |
| Q50476357 | Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction. |
| Q83770907 | Disruption of oligodendrocyte gap junctions in experimental autoimmune encephalomyelitis |
| Q37836200 | Do cell junction protein mutations cause an airway phenotype in mice or humans? |
| Q34478062 | Early disruption of glial communication via connexin gap junction in multiple sclerosis, Baló's disease and neuromyelitis optica |
| Q87301823 | Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies |
| Q43209196 | Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family |
| Q35641969 | Exome sequencing can improve diagnosis and alter patient management |
| Q36497120 | Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form |
| Q34565760 | Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination |
| Q42574030 | Functional heterotypic interactions between astrocyte and oligodendrocyte connexins |
| Q38265030 | GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems |
| Q21710710 | GJC2 missense mutations cause human lymphedema |
| Q34281415 | GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease |
| Q35760051 | Gap junction communication in myelinating glia |
| Q48579102 | Gap junction pathology in multiple sclerosis lesions and normal-appearing white matter |
| Q26850591 | Gap junctions |
| Q33941978 | Gap junctions and blood-tissue barriers |
| Q24645936 | Gap junctions couple astrocytes and oligodendrocytes |
| Q37689002 | Gap junctions in inherited human disease |
| Q26823332 | Gap junctions in inherited human disorders of the central nervous system |
| Q34020827 | Gap junctions. |
| Q39098445 | Gene delivery targeted to oligodendrocytes using a lentiviral vector |
| Q40374604 | Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model. |
| Q31158574 | Genes involved in leukodystrophies: a glance at glial functions. |
| Q79301429 | Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity |
| Q53745180 | Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. |
| Q24654250 | Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations |
| Q36055058 | High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease |
| Q39273628 | Human diseases associated with connexin mutations. |
| Q24655742 | Human-specific transcriptional regulation of CNS development genes by FOXP2 |
| Q28592315 | Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein |
| Q38846368 | Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology. |
| Q48136769 | Leukoencephalopathy upon disruption of the chloride channel ClC-2. |
| Q24682835 | Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease |
| Q36661277 | Magnetic resonance imaging pattern recognition in hypomyelinating disorders |
| Q38268356 | Mechanisms linking connexin mutations to human diseases |
| Q40178608 | Microtubule-assisted altered trafficking of astrocytic gap junction protein connexin 43 is associated with depletion of connexin 47 during mouse hepatitis virus infection |
| Q36744667 | Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy |
| Q42292699 | Modulation of Asymmetric Flux in Heterotypic Gap Junctions by Pore Shape, Particle Size and Charge. |
| Q30474717 | Molecular disruptions of the panglial syncytium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system |
| Q36507155 | Molecular genetics of X-linked Charcot-Marie-Tooth disease |
| Q39604585 | Mouse Hepatitis Virus Infection Remodels Connexin43-Mediated Gap Junction Intercellular Communication In Vitro and In Vivo |
| Q34426537 | Mutations in cardiovascular connexin genes |
| Q34137935 | Mutations in connexin genes and disease |
| Q42632751 | Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema |
| Q37808620 | Myelination and support of axonal integrity by glia |
| Q83162670 | Myelination and the trophic support of long axons |
| Q39051467 | Myopathology in the times of modern genetics |
| Q43063620 | Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32. |
| Q38132499 | Oligodendroglia: metabolic supporters of axons |
| Q48686175 | PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. |
| Q45721301 | PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations. |
| Q28300725 | PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2 |
| Q37715520 | PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies |
| Q47985989 | Panglial gap junctional communication is essential for maintenance of myelin in the CNS. |
| Q33959224 | Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans |
| Q48299744 | Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation |
| Q34381818 | Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. |
| Q41734605 | Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction |
| Q41921317 | Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy |
| Q49917383 | Physiology of Astroglia |
| Q93358606 | Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era |
| Q48872003 | Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease |
| Q42109882 | Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia |
| Q57457368 | Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination |
| Q48302520 | Severe Convulsions and Dysmyelination in Both Jimpy and Cx32/47 -/- Mice may Associate Astrocytic L-Channel Function with Myelination and Oligodendrocytic Connexins with Internodal Kv Channels |
| Q52626070 | Targeting Gap Junctions: New Insights in the Treatment of Major Depressive Disorder. |
| Q40367325 | The detection of hamster connexins: a comparison of expression profiles with wild-type mouse and the cancer-prone Min mouse |
| Q43640694 | The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions |
| Q37165742 | The molecular and cellular defects underlying Pelizaeus-Merzbacher disease |
| Q39130684 | The oligodendroglial precursor cell line Oli-neu represents a cell culture system to examine functional expression of the mouse gap junction gene connexin29 (Cx29). |
| Q53809193 | The role of gap junctions in Charcot-Marie-Tooth disease. |
| Q92975668 | The role of oligodendrocyte gap junctions in neuroinflammation |
| Q36060087 | Tools for diagnosis of leukodystrophies and other disorders presenting with white matter disease |
| Q34102599 | Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. |
| Q52584179 | Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins. |
| Q57814471 | Update on leukodystrophies |
| Q36426758 | Using high-throughput SNP technologies to study cancer |
| Q31111437 | Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature |
| Q38712393 | Zebrafish as a Model for the Study of Chaperonopathies |
| Q57206820 | “Pelizaeus–Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia |
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