research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
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540-570 / 1000+ resultsresearch 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) Affects Keratin 1 and Keratin 17 Gene Expression and Differentially Induces Keratinization in Hairless Mouse Skin
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Preventable effect of L-threonate, an ascorbate metabolite, on androgen-driven balding via repression of dihydrotestosteroneinduced dickkopf-1 expression in human hair dermal papilla cells
L-threonate may help prevent balding by blocking a key protein.
research Sostdc1 defines the size and number of skin appendage placodes
Sostdc1 controls the size and number of hair and mammary gland structures.
research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
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 Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis
Mice without certain skin proteins had abnormal skin and hair development.
research Tumor suppressor activity of ODC antizyme in MEK-driven skin tumorigenesis
Antizyme slows skin tumor growth by reducing cell growth in mice.
research Targeting telomeric RNA quadruplexes with natural metabolites to prevent cancer
research Author response: NuMA-microtubule interactions are critical for spindle orientation and the morphogenesis of diverse epidermal structures
NuMA-microtubule interactions are crucial for proper skin structure and hair growth.
research BMP4 and nuclear laminC orchestrate a expression of AHF/Trichohyalin molecule, a key modulator of keratin intermediate filaments in the hair follicle
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Mouse hair keratin cDNA: Implications and sequences
Scientists identified and cloned specific keratin proteins in mouse hair.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research OVO Homolog-Like 1, a Target Gene of the Wnt/β-Catenin Pathway, Controls Hair Follicle Neogenesis
The OVOL1 gene, controlled by β-catenin, is crucial for creating hair follicles.
research 1358 PRC1 fine-tunes gene repression and activation to safeguard skin epithelium development and stem cell specification
PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research ANXA1 affects murine hair follicle growth through EGF signaling pathway
ANXA1 influences hair growth in mice through the EGF signaling pathway.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Loss of epidermal PLCg1 induced sebaceous gland hyperplasia and sparse hair
Removing PLCg1 from skin cells caused thicker oil glands and less hair in mice.
research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research Perspectives on miRNAs Targeting DKK1 for Developing Hair Regeneration Therapy
Targeting a protein that blocks hair growth with microRNAs could lead to new hair loss treatments, but more research is needed.
research Convergent evolution has led to the loss of claw proteins in snakes and worm lizards
Snakes and worm lizards lost claw proteins due to similar evolutionary changes.
research Deimination in epidermal barrier and hair formation
Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
research Necl2 regulates epidermal adhesion and wound repair
Necl2 affects skin cell behavior and slows wound healing.
research An Investigation of Keratin 15 Function by Small Interfering Ribonucleic Acid Technology
Keratin 15 affects cell behavior and characteristics in skin cells.
research 583 RNA sequencing of immortalised balding and non balding DPCs identifies potential balding gene signatures
The research found specific genes that are more active in balding cells, which could be causing hair loss.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.