research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
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570-600 / 1000+ results research Regulation of Hair Follicle Growth and Development by Different Alternative Spliceosomes of FGF5 in Rabbits
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
research A Mouse Model for the Basal Transcription and 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 RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research The Noggin Null Mouse Phenotype Is Strain Dependent and Haploinsufficiency Leads to Skeletal Defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research Gsdma3 Is Required for Hair Follicle Differentiation in Mice
The Gsdma3 gene is essential for normal hair development in mice.
research Transcriptional Regulation of the Thymus Master Regulator Foxn1
Foxn1 gene regulation is crucial for thymus development but not for hair growth.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Increasing GSH-Px Activity and Activating Wnt Pathway Promote Fine Wool Growth in FGF5-Edited Sheep
Editing the FGF5 gene in sheep increases fine wool growth.
research Downregulation of Lhx2 Markedly Impairs Wound Healing in Mouse Fetus
Turning off the Lhx2 gene in mouse embryos leads to slower wound healing and scars.
research Dynamics and Epigenetics of the Epidermal Differentiation Complex
Epigenetic mechanisms control skin development by regulating gene expression.
research Fetal Alpha 5-Reductase Val89Leu Mutation Is Associated With Late Miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research Tyrosinase Depletion Prevents the Maturation of Melanosomes in the Mouse Hair Follicle
Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
research Let-7b Promotes Alpaca Hair Growth via Transcriptional Repression of TGFβR I
Let-7b helps alpaca hair grow by reducing TGFβR I protein.
research The Opportunities and Challenges Regarding Induced Platelets from Human Pluripotent Stem Cells
Human pluripotent stem cells could be used to make platelets for medical use, but safety, effectiveness, and cost issues need to be resolved.
research Mesenchymal Stem Cell Therapy in Alopecia Areata: Visual and Molecular Evidence from a Mouse Model
Mesenchymal Stem Cell therapy shows promise for treating hair loss in Alopecia Areata.
research TRPV3 as a Therapeutic Target for Itch
Blocking TRPV3 may help treat itch in dry skin conditions.
research Comprehensive Analysis of LncRNA AC010789.1 Delays Androgenic Alopecia Progression by Targeting MicroRNA-21 and the Wnt/β-Catenin Signaling Pathway in Hair Follicle Stem Cells
The LncRNA AC010789.1 slows down hair loss by promoting hair follicle growth and interacting with miR-21 and the Wnt/β-catenin pathway.
research MicroRNA-149-Mediated MAPK1/ERK2 Suppression Attenuates Hair Follicle Stem Cell Differentiation
Increasing miR-149 reduces hair follicle stem cell growth and hair development by affecting certain cell growth pathways.
research ELife Assessment: CaBP1 and 2 Enable Sustained CaV1.3 Calcium Currents and Synaptic Transmission in Inner Hair Cells
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
research Analysis of 72,469 UK Biobank Exomes Links Rare Variants to Male-Pattern Hair Loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research Sdr16c5 and Sdr16c6 Control a Dormant Pathway at a Bifurcation Point Between Meibogenesis and Sebogenesis
Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
research Wnt/β-Catenin Signaling: Function, Biological Mechanisms, and Therapeutic Opportunities
The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Autotaxin–Lysophosphatidic Acid–LPA3 Signaling at the Embryo-Epithelial Boundary Controls Decidualization Pathways
LPA3 signaling in the uterus is crucial for placental formation and fetal development.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Vitamin D and Calcium Signaling in Epidermal Stem Cells and Their Regeneration
Vitamin D and calcium are important for skin stem cell function and wound healing.