research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
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research Australian Hair and Wool Research Society Cutaneous Biology and Endocrinology Workshop
The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
research Copy number variation regions in Nellore cattle: Evidences of environment adaptation
Nellore cattle have genetic variations linked to their adaptation to tropical environments.
research 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 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 Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population
A specific genetic marker is linked to male pattern baldness in Han Chinese men.
research Common variants in the sex hormone-binding globulin gene (SHBG) and polycystic ovary syndrome (PCOS) in Mediterranean women
Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
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.
research Deletion of an Enhancer in FGF5 is Associated With Ectopic Expression in Goat Hair Follicles and the Cashmere Growth Phenotype
A genetic variant in goats is linked to cashmere growth.
research Assessment of androgenic hormones and other risk factors in Egyptian males with early onset androgenetic alopecia: a case control study
Early-onset hair loss in Egyptian males is linked to genetics, hormones, and lifestyle factors like smoking and diet.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Pictorial Essay on Hair Loss; the Result of Head Bones Displacement
The essay suggests hair loss might be caused by changes in skull bones.
research 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank
Rare genetic variants in 125 genes are linked to male-pattern hair loss.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
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 New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer
Certain genetic variants increase the risk of aggressive prostate cancer.
research Trichoscopic Features, Clinical Correlates, and Risk Prediction in Female Pattern Hair Loss: A Retrospective Case-Control Study
Female Pattern Hair Loss is linked to genetics, diet, stress, and certain health conditions.
research CYP3A5 Polymorphism in Circulating Tumor Cells Confers an Increased Disease-Free Survival in DLBCL Patients Treated with R-CHOP
A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study found genetic variations in sheep linked to traits like milk production, growth, and health.
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 Clinical Snippets
Razor bumps are linked to a genetic variant, misoprostol helps erythromelalgia pain, steroid ointments don't affect skin rhythms, and certain antibodies are common in localized scleroderma.
research The hair in childhood and old age
Hair growth issues can be linked to genetics, diseases, or medications, and new treatments are being developed.