research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
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870-900 / 1000+ resultsresearch GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Potent Efficacy of Computer-Aided Designed Peptide Degrader Drug on PCSK9-Mediated Hypercholesterolemia
Cadd4 effectively reduces cholesterol levels without side effects.
research The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women
The VEGF +405G allele may increase the risk of PCOS in South Indian women.
research Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis
Certain gene variants can influence acne risk and severity.
research CD271 orchestrates skin structure, differentiation, and inflammation via PI3K/Akt and PKCα/ERK pathways
CD271 is crucial for maintaining healthy skin and preventing inflammation.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research Gene-Environment Interaction Between CYP1B1 and Oral Contraception on Frontal Fibrosing Alopecia
Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Characterization and expression analysis of KAP7.1, KAP8.2 gene in Liaoning new-breeding cashmere goat hair follicle
KAP7.1 and KAP8.2 genes are crucial for cashmere quality in goats.
research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
research The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China
Certain gene variants are linked to severe acne, especially in males.
research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes
Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
research ACKR2 limits skin fibrosis and hair loss through IFN‐β
ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.
research Using WGCNA (weighted gene co-expression network analysis) to identify the hub genes of skin hair follicle development in fetus stage of Inner Mongolia cashmere goat
Researchers found WNT10A to be a key gene in developing goat hair follicles.
research MAD2B acts as a negative regulatory partner of TCF4 on proliferation in human dermal papilla cells
MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research 555 Dermal single-cell atlas: a novel tool to explore fibroblast heterogeneity
A new tool helps study hair follicle cells to develop better treatments for hair disorders.
research 551 Combining Laser Capture Microdissection and RNAseq Analysis to Generate a Human Anagen Hair Follicle Transcriptome Atlas
Researchers made a detailed map of gene activity for different parts of human hair follicles to help create targeted hair disorder treatments.
research Clinical Snippets
R-spondin2 may help treat hair loss, gene differences could explain baldness, a peptide's regulation is linked to psoriasis, B-defensin gene copies may affect a skin condition's risk and severity, and potential markers and targets for alopecia areata were identified.
research 1365 Elf5, a novel regulator of skin stem/progenitor cells fate during skin development?
Elf5 is important for skin stem cell growth and could help treat skin and hair problems.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Hairless protein of Jumonji family and hair loss
Mutations in the hairless protein gene cause hair loss.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research The impact of certain genetic variants (single nucleotide polymorphisms) on incidence and severity of COVID‐19
Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.