Published in J Invest Dermatol on April 01, 2002
Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome. J Gen Physiol (2010) 1.45
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet (2007) 1.35
Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43. Mol Biol Cell (2004) 1.31
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A (2006) 1.28
The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. Am J Physiol Cell Physiol (2013) 1.12
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
The D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions. J Gen Physiol (2013) 1.01
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations. J Invest Dermatol (2012) 0.95
Progressive symmetric erythrokeratoderma with nephrotic syndrome: Coincidence or new association? Indian Dermatol Online J (2013) 0.94
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss. Front Cell Neurosci (2014) 0.86
Viral vector tropism for supporting cells in the developing murine cochlea. Hear Res (2011) 0.85
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. Am J Med Genet A (2011) 0.82
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics. J Appl Genet (2015) 0.81
Connexin channels in congenital skin disorders. Semin Cell Dev Biol (2016) 0.79
Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder. Indian Dermatol Online J (2012) 0.78
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
[Keratitis-Ichthyosis-Deafness syndrome (KID) in a Togolese child born from a consanguineous marriage]. Pan Afr Med J (2015) 0.75
Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations. BMC Cell Biol (2016) 0.75
Connexinopathies: a structural and functional glimpse. BMC Cell Biol (2016) 0.75
Photodynamic therapy versus topical imiquimod versus topical fluorouracil for treatment of superficial basal-cell carcinoma: a single blind, non-inferiority, randomised controlled trial. Lancet Oncol (2013) 4.75
Surgical excision versus Mohs' micrographic surgery for primary and recurrent basal-cell carcinoma of the face: a prospective randomised controlled trial with 5-years' follow-up. Lancet Oncol (2008) 4.60
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet (2007) 3.94
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet (2002) 2.41
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol (2005) 2.06
Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol (2004) 1.58
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet (2005) 1.33
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet (2009) 1.31
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet (2008) 1.27
Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet (2003) 1.26
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. J Invest Dermatol (2006) 1.24
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. Exp Dermatol (2006) 1.21
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. Hum Mol Genet (2006) 1.11
Comment on Zhao et al. "Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda". Acta Derm Venereol (2015) 1.05
Birt-Hogg-Dube syndrome is a novel ciliopathy. Hum Mol Genet (2013) 1.04
Multiple unilateral skin tumors suggest type 1 segmental manifestation of familial syringoma. Eur J Dermatol (2008) 0.97
The pathogenesis of hemangiomas: a review. Plast Reconstr Surg (2006) 0.96
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. Exp Dermatol (2011) 0.95
Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism. J Invest Dermatol (2011) 0.95
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations. J Invest Dermatol (2012) 0.95
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet (2006) 0.92
Bullous congenital ichthyosiform erythroderma of Brocq. Int J Dermatol (2007) 0.92
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. J Invest Dermatol (2004) 0.90
Reorganization of the nuclear lamina and cytoskeleton in adipogenesis. Histochem Cell Biol (2011) 0.89
Novel missense mutations in the FOXC2 gene alter transcriptional activity. Hum Mutat (2009) 0.88
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress. J Cell Mol Med (2009) 0.87
Clinical differences between atopic and atopiform dermatitis. J Am Acad Dermatol (2008) 0.87
Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned. J Invest Dermatol (2007) 0.86
Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene. J Invest Dermatol (2004) 0.86
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. Am J Pathol (2008) 0.84
Eruption of lymphocyte recovery or autologous graft-versus-host disease? Int J Dermatol (2008) 0.84
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. Exp Dermatol (2007) 0.84
Differentiation between basal cell carcinoma and trichoepithelioma by immunohistochemical staining of the androgen receptor: an overview. Eur J Dermatol (2012) 0.84
Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association? Hum Mutat (2007) 0.83
A prospective randomised open label study to evaluate the potential of a new silver alginate/carboxymethylcellulose antimicrobial wound dressing to promote wound healing. Int Wound J (2010) 0.82
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. J Invest Dermatol (2006) 0.81
Quality of life in patients with vascular malformations of the lower extremity. Br J Plast Surg (2004) 0.81
Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene. J Dermatol Sci (2008) 0.79
Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema. J Invest Dermatol (2008) 0.79
Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol (2003) 0.78
Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin? Exp Dermatol (2009) 0.78
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene. Int J Dermatol (2008) 0.78
Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome. Nat Rev Urol (2010) 0.78
Correlation between histologic findings on punch biopsy specimens and subsequent excision specimens in recurrent basal cell carcinoma. J Am Acad Dermatol (2011) 0.78
Atopic eczema or atopiform dermatitis. Exp Dermatol (2010) 0.76
Mal de Meleda without mutations in the ARS coding sequence. Eur J Dermatol (2002) 0.76
Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria. J Invest Dermatol (2011) 0.76
Intralesional Bleomycin Injections for Vascular Malformations: A Systematic Review and Meta-Analysis. Plast Reconstr Surg (2016) 0.76
Novel TGM5 mutations in acral peeling skin syndrome. Exp Dermatol (2015) 0.76
Recessive palmoplantar keratodermas: a fertile biological hunting ground. Arch Dermatol (2008) 0.75
Does recessive EKV exist? J Invest Dermatol (2005) 0.75
Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X. Acta Derm Venereol (2012) 0.75
Graft-versus-host disease-like eruption preceding a nodal CD30+ lymphoma. Eur J Dermatol (2002) 0.75
Propranolol versus corticosteroids: what should be the treatment of choice in infantile hemangiomas? Ann Plast Surg (2015) 0.75
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis. Acta Derm Venereol (2011) 0.75
Novel KRT83 and KRT86 mutations associated with monilethrix. Exp Dermatol (2015) 0.75
A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background? J Dermatol Sci (2010) 0.75
Correlation between histological findings on punch biopsy specimens and subsequent excision specimens in cutaneous squamous cell carcinoma. Acta Derm Venereol (2015) 0.75