research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
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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 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 The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Monilethrix: a typical case report with microscopic and dermatoscopic findings
A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
research Oral zinc sulphate causes murine hair hypopigmentation and is a potent inhibitor of eumelanogenesisin vivo
Oral zinc sulphate reduces dark hair color in mice.
research A polymorphism in the matrix metalloproteinase-1 gene promoter is associated with the presence of polycystic ovary syndrome in Caucasian women
A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research Multi-Omics Mendelian Randomization Reveals Causal Oxidative Stress Genes in Androgenetic Alopecia.
research Genetics of blond hair
Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
research Clinical evolution of alopecia areata with a male androgenetic alopecia pattern to sisaipho.
A 16-year-old boy's alopecia areata progressed unusually to resemble male pattern baldness.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
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 Microsporum canis infection in a red fox (Vulpes vulpes)
A red fox with skin lesions was cured of a fungal infection after treatment.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Molecular and Pathological Studies on Sarcoptes scabiei in Sheep in Ismailia Province, Egypt.
10.5% of sheep in Ismailia, Egypt, had Sarcoptes scabiei, causing skin issues.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice
Hair loss in certain mice is linked to changes in keratin-related genes.
research Author response: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research A Case of Idiopathic Follicular Mucinosis Treated Successfully with Cyclosporine.
Cyclosporine effectively treated a woman's stubborn skin condition.
research Whole-genome resequencing to investigate the genetic diversity and the molecular basis underlying key economic traits in indigenous sheep breeds adapted to hypoxic environments
Tibetan sheep have specific genes for high-altitude adaptation and wool traits, aiding breeding strategies.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research 137 Loss of myeloid Mcpip1 suppresses hair growth and development of epidermal papilloma of the skin
Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
research Detection of mange-like skin lesions on snow leopard (Panthera uncia) and prey species in Kyrgyzstan
Mange-like skin lesions in snow leopards and prey in Kyrgyzstan raise concerns about disease spread.