research The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.
TRPS1 is crucial for bone, kidney, and hair follicle development.
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600-630 / 1000+ resultsresearch Carbobenzoxy-capped Phe-Lys(BODIPY TMR-X-acyloxymethyl ketone(QSY7)
Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Androgen Receptor Polymorphism-Dependent Variation in Prostate-Specific Antigen Concentrations of European Men
Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
research ANALYSIS OF CTLA 4 GENE +49A/G AND CT60 A/G POLYMORPHISMS IN ALOPECIA AREATA PATIENTS
CT60 polymorphism might increase the risk of Alopecia Areata.
research Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
Researchers found a gene mutation responsible for a rare hair loss condition.
research GLABRA 2 regulates ETHYLENE OVERPRODUCER 1 accumulation during nutrient deficiency-induced root hair growth
GLABRA 2 controls ethylene production to help root hair growth during nutrient deficiency.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research A High Throughput LC-MS Platform for the Discovery of Autotaxin Inhibitors
High-throughput LC-MS screening is effective for finding new autotaxin inhibitors for asthma treatment.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Characteristic Localization of Neuronatin in Rat Tissues
Neuronatin is found in various cells of rat tissues and has a unique location in sperm cells.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research PRMT5 inhibition has a potent anti-tumor activity against adenoid cystic carcinoma of salivary glands
PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
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 Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells
A truncated protein linked to breast cancer may change cell adhesion.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research The evaluation of IL-4 intron 3 VNTR and TNF-α (rs1799964) gene polymorphisms in Egyptian patients with Alopecia Areata: a case-control study
These specific gene polymorphisms are not linked to Alopecia Areata in Egyptians.
research Exploring the role of CYP19A1 single nucleotide polymorphisms in the pathogenesis of female pattern hair loss
Certain gene changes and hormone levels are linked to female hair loss.
research The Transcriptional Co-Activator cAMP Response Element-Binding Protein-Binding Protein Is Expressed in Prostate Cancer and Enhances Androgen- and Anti-Androgen-Induced Androgen Receptor Function
A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
research Corrections to “Adenosine Stimulates Fibroblast Growth Factor-7 Gene Expression Via Adenosine A2b Receptor Signaling in Dermal Papilla Cells”
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Protein Kinase C as a Therapeutic Target
Protein Kinase C shows promise for cancer treatment, but more research is needed to develop effective inhibitors.
research Utilizing functional genomics approaches to characterize risk genes in alopecia areata
Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.