research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
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research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis
Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Molecular modeling and structural characterization of a high glycine–tyrosine hair keratin associated protein
The 3D structure of a key hair protein was modeled, revealing specific helical structures and stabilization features.
research Epidermal and hair follicle transglutaminases and crosslinking in skin
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
research Relation of Skin Polyamines to the Hairless Phenotype in Transgenic Mice Overexpressing Spermidine/Spermine N1-Acetyltransferase
Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
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 Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Glutamic acid-loaded separable microneedle composite for long-acting hair regeneration treatment
Glutamic acid microneedle patches promote better hair growth than traditional treatments.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Synaptic relationships between hair follicle afferents and neurones expressing GABA and glycine‐like immunoreactivity in the spinal cord of the rat
Glycine likely affects dendrites connected to hair follicle terminals in rats.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research The in vitro Assembly of Hair Follicle Keratins: Comparison of Cortex and Companion Layer Keratins
Different conditions affect how hair proteins assemble, and certain mutations can change their structure.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
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 A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Spinal bicuculline produces hypersensitivity of dorsal horn neurons: effects of excitatory amino acid antagonists
Blocking GABA(A) receptors increases neuron sensitivity, showing GABA and glycine have different roles in pain.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research The origin of citrulline-containing proteins in the hair follicle and the chemical nature of trichohyalin, an intracellular precursor
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.