research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
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300-330 / 1000+ results research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Cashmere growth control in Liaoning cashmere goat by ovarian carcinoma immunoreactive antigen-like protein 2 and decorin genes
OCIAD2 and DCN genes affect hair growth in goats by having opposite effects on a growth signaling pathway and inhibiting each other.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research 1433 Role of BNC1 in keratinocytes proliferation and migration: A critical regulator of wound healing?
Basonuclin 1 (BNC1) helps skin cells multiply and move, which is crucial for wound healing.
research 848 Genes implicated in lipid & metabolic regulation downregulated in CCCA
848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Hdac1 and Hdac2 regulate the quiescent state and survival of hair-follicle mesenchymal niche
Hdac1 and Hdac2 help maintain and protect the cells that control hair growth.
research In vitro analyses of CD4-protein function in dedifferentiated keratinocyte cell lines
The CD4 protein may play a role in the behavior of certain skin cells, affecting their growth, movement, and differentiation.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Hormone receptor positive, HER2 negative metastatic breast cancer: Impact of CDK4/6 inhibitors on the current treatment paradigm
CDK4/6 inhibitors have improved treatment outcomes for certain advanced breast cancer patients.
research Sequence Analysis of mtDNA NADH-Ubiquinone Oxidoreductase Chain 1 Gene (ND1) of the Asian Black Bear Sichuan Subspecies (Ursus thibetanus mupinensis)
The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
research The TIP GROWTH DEFECTIVE1 S-Acyl Transferase Regulates Plant Cell Growth in Arabidopsis
The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
research Pharmacological BACE1 and BACE2 inhibition induces hair depigmentation by inhibiting PMEL17 processing in mice
Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
research Stable transfection and identification of a hair follicle-specific expression vector of IGFBP-5 in goat fetal fibroblasts
The method successfully created stable transfection donor cells for goat hair follicle research.
research Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits
Inherited color dilution in rabbits is linked to DNA methylation changes.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research An mTurq2-Col4a1 mouse model allows for live visualization of mammalian basement membrane development
The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
research Association study between the -866G/A polymorphism in the promoter of uncoupling protein-2 gene and polycystic ovary syndrome
The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin Increases the Expression of Genes in the Human Epidermal Differentiation Complex and Accelerates Epidermal Barrier Formation
TCDD speeds up skin barrier formation by increasing certain gene expressions.
research Dermal EZH2 orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell development and hair growth in mice.
research Characterization of a new, inducible transgenic mouse model with GFP expression in melanocytes and their precursors
A new mouse model helps study melanocyte cells using GFP expression.
research Expression Level of Prostaglandin D2 Receptor 2 Regulates Hair Regression
Higher levels of the DP2 receptor may lead to hair loss.
research The biphasic regulatory effect of diphencyprone on mouse hair growth and its relation to protein kinase C isoforms
Diphencyprone initially increases mouse hair growth, then slows it, possibly due to changes in specific protein levels.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research 1272 p21Waf1/Cip1 is differentially expressed in epidermal versus follicular melanocytes and melanoma cells and is phenotypically regulated by UVB-mediated apoptosis
The protein p21 is more abundant in normal skin cells than in melanoma cells and may help protect against melanoma, with UVB light affecting its levels.
research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.