research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
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690-720 / 1000+ resultsresearch Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Constitutive Internalization of the Leucine-rich G Protein-coupled Receptor-5 (LGR5) to the Trans-Golgi Network
LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.
research Few Simple Sequence Repeats in Human Hair
Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research The cellular basis of mechanosensory Merkel-cell innervation during development
BMP signaling is essential for the development of touch domes.
research Identification of dkk4 as a target of Eda-A1/Edar pathway reveals an unexpected role of ectodysplasin as inhibitor of Wnt signalling in ectodermal placodes
Ectodysplasin inhibits Wnt signaling to help form hair follicles.
research Dickkopf-1 Expression in Androgenetic Alopecia and Alopecia Areata in Male Patients
DKK-1 gene linked to hair loss in AGA and AA patients; more research needed for potential therapy.
research A Hero Revealed: Targeting the AHR for treatment of inflammatory skin diseases
AHR ligands could treat inflammatory skin diseases.
research Sequence, expression, and evolutionary conservation of a gene encoding a glycine/tyrosine-rich keratin-associated protein of hair.
KAP6 genes are conserved across species and active in hair follicles.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Building a hair: tip growth inArabidopsis thalianaroot hairs
The study revealed how specific genes and proteins control root hair growth in plants.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research μ-Crystallin, Thyroid Hormone-binding Protein, is Expressed Abundantly in the Murine Inner Root Sheath Cells
μ-Crystallin may help hair growth by affecting thyroid hormone levels in mouse hair follicles.
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 Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles
Runx1 helps control the KAP5 gene in human hair follicles.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin.
Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
research The Basement Membrane of Hair Follicle Stem Cells Is a Muscle Cell Niche
Nephronectin helps attach muscle cells to hair follicles.
research SP1 and KROX20 Regulate the Proliferation of Dermal Papilla Cells and Target the CUX1 Gene
SP1 promotes and KROX20 inhibits hair cell growth by affecting the CUX1 gene.
research Pathogenesis of Alopecia Areata in C3H/HeJ Mice and DEBR Rats
Alopecia areata is an autoimmune disease that targets hair follicles.
research Integrated safety analysis of baricitinib in adults with severe alopecia areata from two randomized clinical trials
Baricitinib for severe alopecia areata is generally safe, with common side effects like infections and acne, and low rates of serious complications.
research Androgen receptor inhibits the hair follicle induction potential of dermal papilla cells by binding with Tcf4 at the A574 binding site
research A Case of Acrodermatitis Enteropathica
Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.
research Extracellular Caspase-1 induces hair stem cell migration in wounded and inflamed skin conditions
Caspase-1 helps hair stem cells move to heal wounded or inflamed skin.
research Blocking α1‐integrin reverts the adhesive phenotype of adult fibroblasts towards a foetal‐like migratory phenotype
Blocking α1-integrin makes adult fibroblasts more like foetal ones, improving their movement and aiding wound healing.
research Alopecia universalis with IL-12-RB1 and STAT4 mutations effectively treated with upadacitinib
Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
research Urokinase plasminogen activator (uPA) is a positive regulator of outer root sheath keratinocyte proliferation
uPA helps hair follicle cells grow.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.