research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
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research Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability”
This review discusses the expanding understanding of TRPV3's role in pain and skin pathology, while highlighting the need for further pharmacological research to fully resolve its functions.
research Discussion: Themes in the Molecular Structure of Hair
This article discusses themes in the molecular structure of hair and reports no new research findings.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
This study identified a novel LZTR1 mutation associated with hybrid schwannoma and neurofibroma in a patient with schwannomatosis, but not all cases of hybrid tumors are linked to this condition.
research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation
This study found that the KrasG12D mutation alters ERK signal dynamics in hair follicle stem cells, leading to tissue deformation, and suggests a collective effect of mutant cells is necessary for disruption.
research 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
research Types I and II Keratin Intermediate Filaments
Keratins are crucial for cell structure, growth, and disease risk.
research Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction
This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
research Molecular basis of hypohidrotic ectodermal dysplasia: an update
This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Skin Keratins
This chapter reviews keratins in skin epithelia, including their roles in cellular function and disease, and reports no new experimental results.
research Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update
This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
research Roles of tumor suppressors in regulating tumor-associated inflammation
This review discusses the role of tumor suppressors in controlling tumor-associated inflammation and suggests that targeting this inflammation may counteract the effects of tumor suppressor loss.
research Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism*
This study concluded that heterozygosity for CYP21 mutations is associated with higher mean and free testosterone levels in women but does not significantly increase their risk of developing clinically evident hyperandrogenism.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
research Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization
In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
research Alopecia in Epidermolysis Bullosa
This review discusses hair abnormalities in various epidermolysis bullosa subtypes and reports no new clinical findings.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.