research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
Search
for
Sort by
Research
150-180 / 1000+ resultsresearch Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein
Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.
research BMP4 and nuclear laminC orchestrate a expression of AHF/Trichohyalin molecule, a key modulator of keratin intermediate filaments in the hair follicle
research Trichohyalin: A structural protein of hair, tongue, nail, and epidermis
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research Probing Keratinocyte and Differentiation Specificity of the Human K5 Promoter in Vitro and in Transgenic Mice
The human K5 promoter controls specific gene expression in skin cells, with key regulatory elements near the TATA box.
research Reshaped DNA methylation cooperating with homoeolog‐divergent expression promotes improved root traits in synthesized tetraploid wheat
DNA changes in tetraploid wheat improve root growth and nitrogen use.
research [A three-dimensional observation of human hair tissue treated by modified trypsin-HC1 method].
The method allows detailed observation of hair tissue structures.
research The structure of human trichohyalin : potential multiple roles as a functional ef-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein
Trichohyalin is a versatile protein involved in hair and skin structure.
research The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse
Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research GRHL3 binding and enhancers rearrange as epidermal keratinocytes transition between functional states
GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
research 0843 N6-methyladenosine RNA modification promotes keratinocyte proliferation and cutaneous wound repair through regulation of MTOR stability
Increasing m6A levels can improve skin cell growth and wound healing.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Probing keratinocyte and differentiation specificity of the human K5 promoter in vitro and in transgenic mice.
The K5 promoter controls gene expression in skin cells, with specific DNA segments crucial for targeting and regulation.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.
research Specific Citrullination Causes Assembly of a Globular S100A3 Homotetramer
A specific chemical change in the S100A3 protein leads to the formation of a four-part structure important for hair formation.
research Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin in the hair follicle.
Trichohyalin in sheep hair follicles may help with structure and calcium binding.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research Isolation and Characterization of Mouse High-glycine/Tyrosine Proteins
Mouse high-glycine/tyrosine proteins have distinct patterns in hair follicles, peaking at specific hair cycle days.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Trichohyalin, an intermediate filament-associated protein of the hair follicle.
Trichohyalin is a protein in hair follicles that helps form hair filaments.
research 583 Hair cycle regulation by a mitochondrially localized protein: Is MPZL3 a central component of the elusive hair cycle clock?
MPZL3 protein is important for controlling hair growth cycles.
research Bidirectional binding property of high glycine–tyrosine keratin-associated protein contributes to the mechanical strength and shape of hair
High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.