research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
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510-540 / 1000+ resultsresearch 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits.
A single recessive gene causes sparse hair in certain Japanese White rabbits.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research Supplementary Material for: Polymorphic CAG Repeat Numbers in the Androgen Receptor Gene of Female Pattern Hair Loss in a Han Chinese Population
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
research Male-pattern baldness susceptibility locus at 20p11
Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Comprehensive Transcriptome Analysis of Hair Follicle Morphogenesis Reveals That lncRNA-H19 Promotes Dermal Papilla Cell Proliferation through the Chi-miR-214-3p/β-Catenin Axis in Cashmere Goats
The research found that the molecule lncRNA-H19 helps hair follicle cells grow by affecting certain cell pathways in cashmere goats.
research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteins
A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function
Hairless protein helps control hair growth by regulating vitamin D receptor activity.
research Hairless triggers reactivation of hair growth by promoting Wnt signaling
The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research Iron deficient toxic milk leads to the mask phenotype in hephaestin knockout mice (907.4)
Iron deficiency in mothers causes hair loss in their baby mice.
research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Molecular basis of congenital atrichia in humans and mice.
Understanding genes and mutations can lead to new treatments for hair loss disorders.
research Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools
Mouse models help study genetic skin diseases.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research 1326 Hes1 regulates anagen initiation and hair follicle regeneration through modulation of hedgehog signaling
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 N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.