• 4-octyl itaconate improves the viability of D66H cells by regulating the KEAP1-NRF2-GCLC/HO-1 pathway
• A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome
• A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies
• A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
• A new variant of Vohwinkel syndrome: a case report
• A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma
• A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness
• A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome
• A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome
• Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma
• Acute respiratory distress syndrome following cardiovascular surgery: current concepts and novel therapeutic approaches
• Ainhum - A Rare Case Report
• Ainhum and "African acral keratoderma": three cases
• An Indian case of keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with ichthyosiform dermatosis
• Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene
• Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma
• Camisa disease: a rare variant of Vohwinkel's syndrome
• Capturing the multifactorial nature of ARDS - "Two-hit" approach to model murine acute lung injury
• Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case
• Complex partial seizures in a case of Vohwinkel syndrome (keratoma hereditaria mutilans)
• Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin
• Connexin-26 mutations in deafness and skin disease
• Correction: Detrimental ELAVL-1/HuR-dependent GSK3β mRNA stabilization impairs resolution in acute respiratory distress syndrome
• D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome
• De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma
• Derivation of a new hematopoietic cell line with endothelial features from a patient with transformed myeloproliferative syndrome: a case report
• Dermoscopic furrow ink test of the palmar lesion in loricrin keratoderma
• Detrimental ELAVL-1/HuR-dependent GSK3β mRNA stabilization impairs resolution in acute respiratory distress syndrome
• Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
• Erythrokeratodermas: a classification in a state of flux?
• Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia
• Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2
• Functional analysis of human Cx26 mutations associated with deafness
• G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome
• Gap junction diseases of the skin
• Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia
• HIF1A-dependent induction of alveolar epithelial PFKFB3 dampens acute lung injury
• Hypoxia signaling during acute lung injury
• Keratoderma hereditaria mutilans (vohwinkel's syndrome)
• Keratoderma hereditarium mutilans (Vohwinkel syndrome)
• Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings
• Keratoderma hereditarium mutilans (Vohwinkel syndrome): an unsolved surgical mystery
• Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome
• Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby
• Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin
• Loricrin palmoplantar keratoderma: full-thickness skin grafting for pseudoainhum
• Low dose TGF-beta1 can improve vohwinkel syndrome by promoting the proliferation of keratinocytes
• Low dose TGF-β1 can improve vohwinkel syndrome by promoting the proliferation of keratinocytes
• Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis)
• Megalin mediates transepithelial albumin clearance from the alveolar space of intact rabbit lungs
• Molecular dynamics simulation links conformation of a pore-flanking region to hyperekplexia-related dysfunction of the inhibitory glycine receptor
• Molecular quantification of human beta-glucuronidase levels in a patient with Vohwinkel's syndrome
• Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma
• Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome
• Mutation analysis of the GJB2 (connexin 26) gene in Egypt
• Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies
• Mutilating acral keratoderma
• New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma
• Niedrig dosiertes Isotretinoin verhindert Amputation bei Loricrin-Palmoplantarkeratose (Vohwinkel-Syndrom mit Ichthyose)
• Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation
• Olmsted syndrome: clinical, molecular and therapeutic aspects
• Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection
• Overview of skin diseases linked to connexin gene mutations
• Palmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis)
• Palmoplantar keratoderma, pseudo-ainhum and knuckle pads in an African patient: A case report
• Plasma microRNA and metabolic changes associated with pediatric acute respiratory distress syndrome: a prospective cohort study
• Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma
• Release of extracellular superoxide dismutase into alveolar fluid protects against acute lung injury and inflammation in <em>Staphylococcus aureus</em> pneumonia
• Restoration of Megalin-Mediated Clearance of Alveolar Protein as a Novel Therapeutic Approach for Acute Lung Injury
• Reversal of pseudo-ainhum with acitretin in Camisa's syndrome
• Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma
• Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830)
• Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis)
• Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype
• Surgical correction of pseudo-ainhum in Vohwinkel syndrome
• Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders
• Targeting alveolar-specific succinate dehydrogenase A attenuates pulmonary inflammation during acute lung injury
• TGF-β inhibits alveolar protein transport by promoting shedding, regulated intramembrane proteolysis, and transcriptional downregulation of megalin
• The c.323 G&gt;C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree
• The effects of a mutant connexin 26 on epidermal differentiation
• The Epidermal Transcriptome Analysis of a Novel c.639_642dup <em>LORICRIN</em> Variant-Delineation of the Loricrin Keratoderma Pathology
• The role of connexins in ear and skin physiology - functional insights from disease-associated mutations
• Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma
• Two novel mutations in the LOR gene in three families with loricrin keratoderma
• Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome
• Variant of Vohwinkel's syndrome
• Vohwinkel Syndrome
• Vohwinkel Syndrome
• Vohwinkel Syndrome
• Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies
• Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations
• Vohwinkel syndrome with mental retardation
• Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report
• Vohwinkel syndrome: ichthyosiform variant in a family
• Vohwinkel syndrome: treatment of pseudo-ainhum
• Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet
• Vohwinkel's syndrome (study of 4 cases)
• Vohwinkel's syndrome in three generations
• Vohwinkel's Syndrome: A Rare Disorder of Keratinization
• What's the resolutive surgery for pseudo-ainhum in Vohwinkel syndrome? A case report and review of the literature