research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
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840-870 / 1000+ resultsresearch A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Characterisation of the Ovine KRTAP36-1 Gene in Chinese Tan Lambs and Its Impact on Selected Wool Traits
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.
research Folliculotropic Mycosis Fungoides with Skewed T-cell Receptor CDR3 Motif: Suggestive of Lipid-antigen Selection?
Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
research Identification de 2 polymorphismes génétiques (SNPs) associés aux spondylarthropathies (SpA) dans le locus SPA2 (9q31-34)
research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
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 BPS2026 – TMC1 and TMC2 are cholesterol-dependent scramblases that regulate membrane homeostasis in auditory hair cells
research Molecular Basis of Maintaining Circannual Rhythm in the Skin of Cashmere Goat
Goat skin adapts to seasonal changes through genes that respond to daylight length, affecting hormone levels and potentially making skin cells light-sensitive.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Chronic overlapping pain conditions and nociplastic pain
Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
research Role of Stearoyl-CoA Desaturase-1 in Skin Integrity and Whole Body Energy Balance
SCD1 is crucial for skin health and overall energy balance.
research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research A Meeting of Two Chronobiological Systems: Circadian Proteins Period1 and BMAL1 Modulate the Human Hair Cycle Clock
BMAL1 and Period1 genes can influence human hair growth.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
AP-1 controls tumor cell type by affecting key signaling pathways.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Rare and common genetic determinants of metabolic individuality and their effects on human health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Inhibition of CCAAT/Enhancer Binding Protein Family DNA Binding in Mouse Epidermis Prevents and Regresses Papillomas
Blocking certain proteins in mouse skin can reduce and shrink skin tumors.
research Network analysis reveals potential mechanisms that determine the cellular identity of keratinocytes and corneal epithelial cells through the Hox/Gtl2-Dio3 miRNA axis
Hox proteins help maintain keratinocyte identity by regulating miRNA expression.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research 1381 Investigating the role of Mef2c in hair follicle cycling
MEF2C is crucial for normal hair cycle progression.
research Cross-species amplification of human microsatellite markers in pig-tailed and stump-tailed macaques
Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
research Mediator 1 ablation induces enamel-to-hair lineage conversion through enhancer dynamics
Removing Mediator 1 causes teeth cells to turn into hair cells.
research 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research MicroRNA-302 Increases Reprogramming Efficiency via Repression of NR2F2
MicroRNA-302 helps improve the conversion of body cells into stem cells by blocking NR2F2.