research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
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research The atypical ‘hippocampal’ glutamate receptor coupled to phospholipase D that controls stretch‐sensitivity in primary mechanosensory nerve endings is homomeric purely metabotropic GluK2
A special receptor in sensory nerve endings helps control how they respond to stretching.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Inhibition of a signaling modality within the gp130 receptor enhances tissue regeneration and mitigates osteoarthritis
Blocking a certain signal in the gp130 receptor can improve tissue healing and lessen osteoarthritis symptoms.
research Bioinformatics analysis and verification of m6A related genes based on the construction of keloid diagnostic model
IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
research Table 3_Molecular mechanisms underlying cashmere quality differences between Jiangnan cashmere goats and Changthangi pashmina goats.xlsx
Key genes affect cashmere quality differences between Jiangnan and Changthangi goats.
research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Interaction of OsRopGEF3 Protein With OsRac3 to Regulate Root Hair Elongation and Reactive Oxygen Species Formation in Rice (Oryza sativa)
OsRopGEF3 is crucial for rice root hair growth and ROS production.
research Table 1_Molecular mechanisms underlying cashmere quality differences between Jiangnan cashmere goats and Changthangi pashmina goats.xlsx
Differences in cashmere quality between goat breeds are linked to specific genes and pathways.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
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 Impaired Keratinocyte Proliferative and Clonogenic Potential in Transgenic Mice Overexpressing 14-3-3σ in the Epidermis
Overexpressing 14-3-3σ in mice skin reduces cell growth and hair density.
research AXR3andSHY2interact to regulate root hair development
AXR3 and SHY2 genes control the growth and timing of root hair development in plants.
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research In vivo Alteration of the Keratin 17 Gene in Hair Follicles by Oligonucleotide-directed Gene Targeting
Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Expression of MsPG3‐GFP fusions in Medicago truncatula‘hairy roots’ reveals preferential tip localization of the protein in root hairs
MsPG3 protein gathers at root hair tips, aiding growth.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Defining a Region of the Human Keratin 6a Gene That Confers Inducible Expression in Stratified Epithelia of Transgenic Mice
The human keratin 6a gene's specific sequences trigger expression in skin layers after injury.
research 169 TEDAR, a skin-specific long non-coding RNA, orchestrates the late epidermal differentiation program in the human epidermis
TEDAR is crucial for skin cell differentiation and barrier formation.
research GENOME-WIDE ANALYSIS REVEALS THE MOLECULAR BASIS OF GENETIC VARIATION OF IMPORTANT ECONOMIC TRAITS IN CASHMERE GOATS ON QINGHAI-TIBET PLATEAU
Genetic analysis of Cashmere goats identified key genes for wool, reproduction, and high-altitude adaptation.
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 Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research A Multiaxial Bioreactor Integrated with an Environmental Monitoring System for Tissue‐Engineered Skin Grafts
The new bioreactor improves skin grafts by evenly stretching cells and monitoring conditions for better growth.
research Monovalent antibody-conjugated lipid-polymer nanohybrids for active targeting to desmoglein 3 of keratinocytes to attenuate psoriasiform inflammation
The targeted nanohybrids effectively reduced psoriasis symptoms and improved skin health.