research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
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570-600 / 1000+ resultsresearch Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Structural insights into SARS-CoV-2 spike protein and its natural mutants found in Mexican population
Mutations in the spike protein affect drug binding and effectiveness.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research Functional Characterization offer-ts, a Temperature-Sensitive FERONIA Mutant Allele That Alters Root Hair Growth
The fer-ts mutation in plants prevents root hair growth at high temperatures.
research Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia
Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
research GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT
MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
research 861 EGFR/MEK inhibitor therapy induces partial hair follicle immune privilege collapse in vivo and ex vivo
research EDA2R Is Associated with Androgenetic Alopecia
EDA2R gene linked to hair loss.
research Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix
The keratin tail is crucial for skin structure and function.
research Ornithine decarboxylase overexpression is a sufficient condition for tumor promotion in mouse skin.
High levels of ornithine decarboxylase can cause tumors in mouse skin.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study
The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
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 Increased frequency of heterozygoshy for the 21 hydroxylase deficiency among hersute females
Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Growth retardation and hair loss in transgenic mice overexpressing human H-ferritin gene
Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research Generation of a Novel Inducible and Dermal Papilla‐Specific Wif1‐CreER Knock‐In Mouse Line for Hair Follicle Research
A new genetic tool improves the study of hair growth and potential hair disorder treatments.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
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 Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.