Published in Hum Mol Genet on July 01, 1999
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GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet (2002) 1.71
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The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell (2011) 1.04
Connexin mutations in skin disease and hearing loss. Am J Hum Genet (2001) 1.03
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. J Med Genet (2003) 1.01
A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. Am J Pathol (2006) 0.98
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss. Curr Genomics (2011) 0.96
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. Am J Hum Genet (2010) 0.95
Gap junctions and blood-tissue barriers. Adv Exp Med Biol (2012) 0.92
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Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. Am J Hum Genet (2013) 0.90
Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice. J Invest Dermatol (2014) 0.88
Viral vector tropism for supporting cells in the developing murine cochlea. Hear Res (2011) 0.85
Genetic disorders of palm skin and nail. J Anat (2003) 0.84
The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants. Biochem J (2010) 0.84
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. Am J Med Genet A (2011) 0.82
Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype. J Invest Dermatol (2014) 0.80
Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling. Cell Tissue Res (2014) 0.80
Connexin channels in congenital skin disorders. Semin Cell Dev Biol (2016) 0.79
Successful surgical management of keratoderma hereditaria mutilans. Hand (N Y) (2013) 0.79
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Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder. Indian Dermatol Online J (2012) 0.78
Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease. BMC Neurol (2007) 0.78
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report. BMC Med Genet (2016) 0.77
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. Am J Med Genet A (2008) 0.76
Human diseases associated with connexin mutations. Biochim Biophys Acta (2017) 0.75
Autosomal recessive Keratoderma-Ichthyosis-Deafness (ARKID) syndrome is caused by VPS33B mutations affecting Rab protein interaction and collagen modification. J Invest Dermatol (2016) 0.75
Connexinopathies: a structural and functional glimpse. BMC Cell Biol (2016) 0.75
A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics. Mol Cytogenet (2014) 0.75
Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome. Medicine (Baltimore) (2016) 0.75
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell (1987) 16.01
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell (1988) 10.75
A forkhead-domain gene is mutated in a severe speech and language disorder. Nature (2001) 9.25
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature (1986) 6.45
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature (1986) 6.34
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Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A (1985) 5.50
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62
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Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet (1993) 3.63
An improved method for isolation of mouse pancreatic islets. Transplantation (1985) 3.52
LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Mol Psychiatry (2007) 3.49
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet (1999) 3.25
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet (2000) 2.96
The UTX gene escapes X inactivation in mice and humans. Hum Mol Genet (1998) 2.91
Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc Natl Acad Sci U S A (1991) 2.89
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet (2000) 2.85
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet (1987) 2.64
Adult Thymectomy: Effect on Recovery from Immunologic Depression in Mice. Science (1965) 2.41
A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. Am J Hum Genet (1999) 2.38
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (1995) 2.38
Localisation of a gene implicated in a severe speech and language disorder. Nat Genet (1998) 2.33
Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol (1996) 2.30
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet (2005) 2.24
Influence of rejection therapy on fungal and nocardial infections in renal-transplant recipients. Lancet (1973) 2.22
Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries. Proc Natl Acad Sci U S A (1991) 2.21
Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group. Epidemiology (1997) 2.15
Reproducible high yield of rat islets by stationary in vitro digestion following pancreatic ductal or portal venous collagenase injection. Transplantation (1987) 2.14
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04
Pulmonary nocardiosis. Therapy with minocycline and with erythromycin plus ampicillin. JAMA (1973) 1.94
Complete coverage of the Schizosaccharomyces pombe genome in yeast artificial chromosomes. Nat Genet (1992) 1.93
Possible active enhancement of a human cadaver renal allograft with antilymphocyte serum (ALS) and donor bone marrow: case report of an initial attempt. Surgery (1976) 1.84
Antiserum to lymphocytes: prolonged survival of canine renal allografts. Science (1966) 1.81
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet (1997) 1.79
Two hundred one consecutive living-donor nephrectomies. Arch Surg (1998) 1.75
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. J Med Genet (2005) 1.74
A marker for Stevens-Johnson syndrome ...: ethnicity matters. Pharmacogenomics J (2006) 1.73
A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet (2001) 1.69
Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Behav Genet (2010) 1.67
Gene polymorphism in Netherton and common atopic disease. Nat Genet (2001) 1.66
Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. Lancet (1998) 1.66
Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science (1987) 1.66
Analysis of the human VPS13 gene family. Genomics (2004) 1.65
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell (1994) 1.65
FOXP2 is not a major susceptibility gene for autism or specific language impairment. Am J Hum Genet (2002) 1.63
Some effects of purified heterologous antihuman lymphocyte serum in man. Transplantation (1967) 1.62
Effect of adult thymectomy on the recovery from immunological depression induced by anti-lymphocyte serum. Surg Forum (1965) 1.60
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet (2000) 1.60
Glycine loops in proteins: their occurrence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins. Int J Biol Macromol (1991) 1.59
Pachydermodactyly and atrophia maculosa varioliformis cutis. Dermatology (1995) 1.57
Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br (2004) 1.57
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet (2002) 1.56
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. J Cell Sci (2001) 1.54
Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Mol Psychiatry (2006) 1.54
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet (1993) 1.53
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Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology (2004) 1.51
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Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. Br J Dermatol (2004) 1.49
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet (2000) 1.48
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet (1996) 1.47
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A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell (1992) 1.46
Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes Brain Behav (2007) 1.46
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Mol Psychiatry (2009) 1.45
An immunohistochemical analysis of human aortic fatty streaks. Hum Pathol (1987) 1.45
McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol (2001) 1.45
Controversies in organ donation: the altruistic living donor. Nephrol Dial Transplant (2001) 1.45
Prenatal UPD testing survey in Robertsonian translocations. Prenat Diagn (2000) 1.42
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am J Hum Genet (2001) 1.42
Preemptive plasmapheresis and recurrence of FSGS in high-risk renal transplant recipients. Am J Transplant (2005) 1.38
'Matchstick' eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome. J Eur Acad Dermatol Venereol (2009) 1.38
Autism: recent molecular genetic advances. Hum Mol Genet (2000) 1.34
Isolation of the human Xp21 glycerol kinase gene by positional cloning. Hum Mol Genet (1993) 1.34
Genetic advances in the study of speech and language disorders. Neuron (2010) 1.33
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol (1997) 1.32
Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium. Am J Med Genet (1999) 1.31
High incidence of fungus infections in renal transplantation patients treated with antilymphocyte and conventional immunosuppression. Transplant Proc (1973) 1.31
Localisation of a gene for Darier's disease. Hum Mol Genet (1993) 1.31
Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21. Genomics (1993) 1.30
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol (1998) 1.28
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A (1986) 1.27
Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics (1995) 1.26
Pachyonychia congenita: mutations and clinical presentations. Br J Dermatol (2001) 1.26
Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region. Nat Genet (1992) 1.25
Heterologous antilymphocyte sera and some of their effects. Transplantation (1967) 1.25
Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins. Genomics (1997) 1.23
A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Hum Mol Genet (1993) 1.23
Construction and characterization of a 10-fold genome equivalent rat P1-derived artificial chromosome library. Genomics (1998) 1.22
Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination. Hum Mol Genet (1992) 1.22
Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK. J Med Genet (2004) 1.22
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Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene. Hum Mol Genet (1997) 1.21
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet (2000) 1.20