research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
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research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research The up‐regulation of 14‐3‐3 proteins in Smad4 deficient epidermis and hair follicles at catagen
Increased 14-3-3 proteins may block hair cycle regression, causing hair loss.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
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 C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A rare case of hypotrichosis with juvenile macular dystrophy (HJMD) was identified in a six-year-old Saudi girl with sparse scalp hair and progressive vision loss. Born to consanguineous parents, she exhibited symptoms from birth, including decreased night vision and cone-rod dysfunction. Genetic analysis revealed a homozygous missense mutation, c.1918T>G (p.Cys640Gly), in the CDH3 gene. This finding contributes to the understanding of the genetic spectrum of HJMD in Saudi Arabia, highlighting the importance of genetic evaluation in patients with similar clinical features.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
research Targeted expression of activated erbB-2 to the epidermis of transgenic mice elicits striking developmental abnormalities in the epidermis and hair follicles.
Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
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 Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice
Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
research A Tale of Two Haplotypes: The EDA2R/AR Intergenic Region is the Most Divergent Genomic Segment between Africans and East Asians in the Human Genome
The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
research Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes
Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Keratinocyte-specific ablation of the NF-κB regulatory protein A20 (TNFAIP3) reveals a role in the control of epidermal homeostasis
A20 protein is crucial for normal skin and hair development.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Interactions of the Vitamin D Receptor with the Corepressor Hairless
Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
research The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.