research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
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480-510 / 1000+ resultsresearch 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 A mouse with bad hair and poor taste
A defective gene causes hair loss and taste insensitivity in BTBR mice.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
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.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
research The pattern recognition receptor toll-like receptor 3 regulates skin barrier homeostasis
Toll-like receptor 3 helps repair the skin barrier after UV damage.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
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 Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research TON1 recruiting motif 21 positively regulates the flavonoid metabolic pathway at the translational level in Arabidopsis thaliana
TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
research The secret identities of TMPRSS2: Fertility factor, virus trafficker, inflammation moderator, prostate protector and tumor suppressor
TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research Neurotrophin-4 modulates the mechanotransducer Cav3.2 T-type calcium current in mice down-hair neurons
Neurotrophin-4 increases calcium current in specific mouse neurons through the PI3K pathway.
research The TRF1 telomere protein is essential for the generation and maintenance of iPS cells and marks both pluripotent and adult stem cells
TRF1 is crucial for creating and maintaining stem cells and marks both pluripotent and adult stem cells.
research LB1256 TRIV-509, a dual inhibitor of KLK5 and KLK7, rapidly improves barrier integrity and markers of epidermal differentiation in atopic dermatitis skin explants
TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Identification and characterization of the hamster polyomavirus middle T antigen
The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research Variation in the ovine trichohyalin gene and its association with wool curvature
Variation in the TCHH gene affects wool curliness in sheep.
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 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 A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11
research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.
A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.