research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
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research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
Mutation in hairless gene may increase hair loss risk.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research The association between HDAC9 gene polymorphisms and stroke risk in the Chinese population: A meta-analysis
Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
research Polymorphisms and association of FAT1 gene with wool quality traits in Chinese Merino sheep
The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
research Association between VDR Gene Polymorphisms and Melanoma Susceptibility in a Colombian Population
Certain VDR gene changes can affect melanoma risk.
research Analysis of gene expression patterns and levels in maize hybrids and their parents
Maize hybrids show better early growth due to complex gene interactions from their parent strains.
research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
The ASIP gene is crucial for determining cattle coat color.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research Hair follicle gene expression profiling in the SubPopulations and InteRmediate Outcome Measures in COPD Study (SPIROMICS)
Hair follicles can be used to study gene expression and understand conditions like COPD.
research Brain-targeted intranasal delivery of protein-based gene therapy for treatment of ischemic stroke
Intranasal delivery of gene therapy shows promise for treating ischemic stroke.
research Overexpression of HE4/WFDC2 gene in mice leads to keratitis and corneal opacity
Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
research Tofacitinib for the treatment of severe alopecia areata and variants: A study of 90 patients
Tofacitinib is effective and safe for severe hair loss, but full regrowth is less likely after 10 years of hair loss.
research The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Spatiotemporal control of CRISPR/Cas9 gene editing
The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.
research Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets?
The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Proprietary Herbal Extract Downregulates the Gene Expression of Il-1 and #945; in HaCaT Cells: Possible Implications Against Nonscarring Alopecia
A herbal extract may help treat certain types of hair loss by reducing a specific gene's activity.
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 Convergent Decay of Skin-specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
research Genotypic and Phenotypic Study of PDCD4 gene Concerning micro RNA-21 and micro RNA-449b Polymorphism in Breast Cancer
PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
research Minoxidil exerts different inhibitory effects on gene expression of lysyl hydroxylase 1, 2, and 3: Implications for collagen cross-linking and treatment of fibrosis
Minoxidil affects collagen-related genes, potentially helping treat fibrosis.
research W locus alleles of the KIT Gene in Turkish Van Cats and Their Association with Certain Phenotypes
Turkish Van cats' genotypes don't affect traits like eye color or hair length.
research Effect of Ficus carica leaf extract on the gene expression of selected factors in HaCaT cells
Ficus carica leaf extract may help treat skin disorders by reducing inflammation and androgen effects in skin cells.
research Modulation of Photoaging-Induced Cutaneous Elastin: Evaluation of Gene and Protein Expression of Markers Related to Elastogenesis Under Different Photoexposure Conditions
UV exposure accelerates skin aging by altering elastin, leading to wrinkles.