research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
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840-870 / 1000+ resultsresearch A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
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 Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Genetically separable determinants of hair keratin gene expression
Mutations in the Whn gene affect hair keratin gene expression differently.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
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.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research O04 HPV8 E6 leads to Lrig1+ keratinocyte stem cell expansion
HPV8 E6 gene causes growth of certain skin stem cells.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].
research Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women
The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.
research Frequency of an electrophoretic variant of hair alpha keratin in human populations.
The hair keratin variant is mostly found in Caucasians.
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 Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Improving human forensics through advances in genetics, genomics and molecular biology
DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
research Anti-TNF antibody-induced psoriasiform skin lesions in patients with inflammatory bowel disease are characterised by interferon-γ-expressing Th1 cells and IL-17A/IL-22-expressing Th17 cells and respond to anti-IL-12/IL-23 antibody treatment
Anti-IL-12/IL-23 antibody therapy effectively treats psoriasiform skin lesions in IBD patients.
research 25 Hydroxyvitamin D 1 α-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis
The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
research The pathophysiology of polycystic ovary syndrome: trying to understand PCOS and its endocrinology
The conclusion is that PCOS is caused by ovarian sensitivity to hormones and disrupted hormone control, possibly due to ovarian factors, and more research is needed.