research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
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420-450 / 1000+ results research Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells
Injecting specific cells into the skin can help improve skin structure and reduce blisters in a genetic skin disorder.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Genetic Single Nucleotide Polymorphisms of IL-16 and its Concentration of Patients Infected with Alopecia Areata in Diyala Province, Iraq
Certain genetic variations in IL-16 may increase the risk of alopecia areata.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation
GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
research Detection of NUDT15 R139C variants and azathioprine utilization in patients with dermatologic conditions
research Platelet rich plasma intradermal injections the area of expression of CD34 and B-catenin in males with androgenetic alopecia 11th World Congress for Hair Reserch
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 Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Pre-receptor regulation of the androgen receptor
Two enzymes regulate androgen receptor activity, affecting treatments for androgen insufficiency and benign prostatic hyperplasia.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Ligand‐independent Regulation of the hairless Promoter by Vitamin D Receptor†
Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Spectrum of Phenotypes Associated with Human MC1R Variations
MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Mitogen‐regulated protein/proliferin mRNA induction following single applications of tumor promoters to murine skin
mrp/plf-mRNA can indicate tumor-promoting effects in skin.
research [The effect of 1, 25-dihydroxyvitamin D3 on cultured human hair follicle cells from a patients with vitamin D-dependent rickets type II with alopecia].
DDR-II hair follicle cells don't respond to 1, 25-dihydroxyvitamin D3, aiding diagnosis.
research A pilot study on relationship between quantity of growth factors and cytokines to blood groups in umbilical cord blood-derived PRP
B blood type has the highest growth factors and cytokines in umbilical cord blood-derived PRP.
research Genetic Variants at 20p11 Confer Risk to Androgenetic Alopecia in the Chinese Han Population
Genetic variants at 20p11 increase baldness risk in Chinese Han people.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research The Relation of the SHBG Gene Polymorphism (rs1799941) with PCOS in a Group of Iraqi Women
Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
research Charting the Bromodomain BRD4: Towards the Identification of Novel Inhibitors with Molecular Similarity and Receptor Mapping
Researchers identified promising inhibitors for the BRD4 protein, including finasteride and amentoflavone.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.