research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
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120-150 / 1000+ resultsresearch Quantitation of human mitochondrial DNA and whole mtGenomes sequencing of fingernail/hair shaft samples
Mitochondrial DNA from nails and hair can be effectively analyzed for forensic use.
research Mrp4, A New Mitogen-Regulated Protein/Proliferin Gene; Unique in this Gene Family for its Expression in the Adult Mouse Tail and Ear1
A new gene, mrp4, is found in mice and may play a unique role in hair follicle development in tails and ears.
research MLO ‐mediated Ca2+ influx regulates root hair tip growth in Arabidopsis
MLO proteins help regulate calcium and ROS levels, promoting root hair growth in Arabidopsis.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Structures of Get3d reveal a distinct architecture associated with the emergence of photosynthesis
Get3d protein helps maintain photosynthesis in plants and photosynthetic bacteria.
research The pattern recognition receptor toll-like receptor 3 regulates skin barrier homeostasis
Toll-like receptor 3 helps repair the skin barrier after UV damage.
research Decision letter: Structural basis of malodour precursor transport in the human axilla
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
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 Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research DNA Methylation Mediates lncRNA2919 Regulation of Hair Follicle Regeneration
DNA methylation controls lncRNA2919, which negatively affects hair growth.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Decision letter: NuMA-microtubule interactions are critical for spindle orientation and the morphogenesis of diverse epidermal structures
NuMA-microtubule interactions are vital for proper skin structure formation and function.
research 766 H3K9me3 methyltransferase SETDB1 controls retrotransposon silencing, DNA methylation, constitutive heterochromatin maintenance and 3D-chromatin structure in epidermal keratinocytes
SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
research Gsdma3 regulates hair follicle differentiation via Wnt5a-mediated non-canonical Wnt signaling pathway
Gsdma3 affects hair growth by controlling Wnt5a, which influences hair cell development.
research Isolation and Molecular Cloning of Epidermal- and Hair Follicle-Specific Peptidylarginine Deiminase (Type III) from Rat
PAD type III enzyme is specific to rat skin and hair follicles.
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.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
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 iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle 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 Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Retardation of Hair Follicle Development by the Deletion of TrkC, High-Affinity Neurotrophin-3 Receptor
Lack of TrkC receptor delays hair follicle development.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research The Naked (N) Mutation, Chromosome 15
The naked mutation in mice causes hair loss and helps identify keratin genes.
research Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy
LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.