research Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder
VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
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180-210 / 1000+ results research Functional redundancy of Frizzled 3 and Frizzled 6 in planar cell polarity control of mouse hair follicles
Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research ARHGEF3 Regulates Hair Follicle Morphogenesis
ARHGEF3 is essential for proper hair follicle development.
research Rps14 upregulation promotes inner ear progenitor proliferation and hair cell regeneration in the neonatal mouse cochlea
Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
research Rat hair follicle-constituting cells labeled by a newly-developed somatic stem cell-recognizing antibody: a possible marker of hair follicle development.
A3 antibody helps identify key cells in rat hair follicle development.
research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
research New fluorogenic probes for neutral and alkaline ceramidases
New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research A doxycycline- and light-inducible Cre recombinase mouse model for optogenetic genome editing
The DiLiCre mouse model is an effective tool for precise genome editing using light.
research Region-specific reversal of epidermal planar polarity in the rosette fancy mouse
Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
research MYB83 plays an important negative role in ethylene‐mediated root hair growth and involves in plant tolerance three major nutrient deficiencies
MYB83 limits root hair growth and helps plants tolerate nutrient deficiencies.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep
The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
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 Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
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 Differential Regulation of Vitamin D Receptor (VDR) By P53, P63 and P73
p63 and p73 regulate the vitamin D receptor, affecting cancer cell behavior and vitamin D sensitivity.
research Disease modifying osteoarthritis drug discovery using a temporal phenotypic reporter in 3D aggregates of primary human chondrocytes
Aromoline and DRD4 are potential targets for osteoarthritis treatment.
research 854 CCL5 affects the hair-inductive capacity of three-dimensional (3D)-cultured dermal papilla cells
CCL5 is important for the hair growth potential of human dermal papilla cells.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research Application of PCR Technique to Detect Polymorphism of the KRTAP1.1 Gene in Three Sheep Breeds - A Review
The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.