research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
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540-570 / 1000+ resultsresearch Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research 848 Genes implicated in lipid & metabolic regulation downregulated in CCCA
848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
research Variation in the caprine keratin-associated protein 15-1 (KAP15-1) gene affects cashmere fibre diameter
The KRTAP15-1 gene affects cashmere fiber thickness in goats.
research The RAIG Family Member, GPRC5D, Is Associated with Hard-Keratinized Structures
GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
research Review of Women with Vision: The Presentation Sisters of South Dakota, 1880-1985
Knocking out the FGF5 gene in sheep increased wool production and hair-follicle density.
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
research Transglutaminase-3, an esophageal cancer-related gene
Transglutaminase-3 is often reduced in esophageal cancer.
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research LGR5 is a Marker of Poor Prognosis in Glioblastoma and is Required for Survival of Brain Cancer Stem‐Like Cells
High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research ダブルストロボレンジファインダの開発(特別講演)(画像センシングおよび一般)
Some prostate cancers have gene changes that may affect treatment with certain drugs.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research 915 Dietary grape powder inhibits atopic dermatitis-like skin lesions in NC/Nga mice
Eating grape powder may reduce the severity of skin allergy symptoms.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research 042 Characterization of Pathogenic CD8+ T Cells in an adoptive transfer Mouse Model of Alopecia Areata in C3H/HeJ mice
Certain CD8+ T cells attack hair follicles in alopecia areata, suggesting they could be targeted for treatment.
research Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome
There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Conditional expression of the ErbB2 oncogene elicits reversible hyperplasia in stratified epithelia and up-regulation of TGFα expression in transgenic mice
research Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
research Clinical Findings, Response to Steroid Treatment, and Recurrence Rate in Alopecia Areata Patients with or without a Nonsynonymous Variant of Coiled-Coil Alpha-Helical Rod Protein 1
Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
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 Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research ASSESSMENT OF SERUM LEVELS OF ANTIGLIADIN ANTIBODIES (IgG and IgA) IN PATIENTS WITH ALOPECIA AREATA AND THEIR RELATION TO SEVERITY OF THE DISEASE
Higher antigliadin antibodies are linked to more severe alopecia areata, suggesting screening for celiac disease in these patients.