Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
February 2016
in “
Journal of Investigative Dermatology
”
Research cited in this study
22 / 22 resultsresearch Complete Structure of an Epithelial Keratin Dimer: Implications for Intermediate Filament Assembly
The study provided the first three-dimensional structural models of the complete epithelial human K1/K10 keratin dimer, revealing insights into the tri-domain structure consisting of the head, rod, and tail. It highlighted the chirality of the rod-domain twist and identified tri-subdomain partitioning in the head and tail domains. Additionally, the research identified residue characteristics that mediate non-covalent contact between chains in the dimer. These findings were significant for understanding the molecular-level connections between structure and function in intermediate filament proteins and were applicable to other epithelial keratins and intermediate filament proteins.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
The study investigated woolly hair (WH) in two consanguineous Pakistani families and identified a homozygous missense variant c.950T>C (p.(Leu317Pro)) in the KRT25 gene as the cause of autosomal recessive WH. This variant was found to disrupt the protein structure, potentially affecting the interaction with type II keratins in the hair follicle, leading to the characteristic tightly curled hair. The findings highlighted a novel gene involved in hair abnormalities and supported the role of type I keratins in hair follicle development and hair texture maintenance.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
The study investigated a consanguineous Pakistani family with autosomal recessive pure hair and nail ectodermal dysplasia (AR PHNED) and identified a rare homozygous c.821T>C variant (p.Phe274Ser) in the KRT74 gene. This mutation, which affects the stability of keratin intermediate filaments, was linked to the condition in the family, as confirmed by immunohistochemical analyses showing loss of Keratin-74 expression in affected individuals. This was the first time a KRT74 missense variant was associated with AR PHNED, expanding the known phenotypic spectrum of KRT74 mutations, which were previously linked to autosomal dominant woolly hair/hypotrichosis simplex (ADWH).
research Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
research Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research The human keratins: biology and pathology
research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Hair Follicle-Specific Keratins And Their Diseases
Only a few hair-specific keratins are linked to inherited hair disorders.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
A genetic mutation in the LIPH gene causes hair loss and growth defects.
research K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) Represent the Type I Inner Root Sheath Keratins of the Human Hair Follicle
research Keratins of the Human Hair Follicle
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
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