research NonClassic Congenital Adrenal Hyperplasia
NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
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research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research A novel 22-bp InDel within FGF7 gene is significantly associated with growth traits in goat
A specific gene variation in goats is linked to better growth traits.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Isozyme phenotypes of polyoma virus tumors in mice.
DNA virus-induced tumors have consistent isozyme profiles, unlike other tumor types.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Epigen Transgenic Mice Develop Enlarged Sebaceous Glands
Overexpressing the epigen gene in mice leads to enlarged sebaceous glands and greasy fur.
research THE GENETICS OF CYP GENE VARIANTS IN ASSOCIATION WITH POLYCYSTIC OVARY SYNDROME: A NARRATIVE REVIEW
Genetic variants in CYP genes may worsen PCOS symptoms.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Deep Hair Phenomics: Implications in Endocrinology, Development, and Aging
A new tool can analyze hair to detect changes due to hormones, genetics, and aging.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research RSPO1, a potent inducer of pancreatic β cell neogenesis
RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Author response: 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 is tolerated in certain mouse cancer models.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Do Changes in Chromosomes Cause Aging?
Chromosomal changes, including those in the WRN gene and rDNA, may significantly contribute to aging.
research Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy
LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
research Alopecia X in a cloned Pomeranian dog
Alopecia X in Pomeranians is likely genetic, not environmental.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
research Primary Generalized Glucocorticoid Resistance and Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.