research A functional polymorphism in interleukin-1α (IL1A) gene is associated with risk of alopecia areata in Chinese populations
A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
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research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia
Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
research Transgenic mice overexpressing protein kinase C epsilon in their epidermis exhibit reduced papilloma burden but enhanced carcinoma formation after tumor promotion.
Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research 676 An underlying mechanism of hair loss in acrodermatitis enteropathica
Zinc deficiency causes reversible hair loss by disrupting hair growth and stem cell function.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research Role of the Notch Ligand Delta1 in Embryonic and Adult Mouse Epidermis
Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
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 The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series
EGFR inhibitors often cause dry, brittle hair and eyebrow/eyelash changes.
research Clinical Snippets
R-spondin2 may help treat hair loss, gene differences could explain baldness, a peptide's regulation is linked to psoriasis, B-defensin gene copies may affect a skin condition's risk and severity, and potential markers and targets for alopecia areata were identified.
research Alteration of Skin Wound Healing in Keratinocyte-Specific Mediator Complex Subunit 1 Null Mice
MED1 affects skin wound healing differently in young and old mice.
research Delta‐6 desaturase knockout mouse illustrates previously undocumented pathology
Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research An in vivo comparative study of sonic, desert and Indian hedgehog reveals that hedgehog pathway activity regulates epidermal stem cell homeostasis
Proper hedgehog signaling is crucial for maintaining healthy skin stem cells.
research MiR-199a-3p Regulates the PTPRF/β-Catenin Axis in Hair Follicle Development: Insights into the Pathogenic Mechanism of Alopecia Areata
miR-199a-3p controls hair growth and is linked to alopecia areata.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Dynamic Signals for Hair Follicle Development and Regeneration
Certain signals and genes play a key role in hair growth and regeneration, and understanding these could lead to new treatments for skin regeneration.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research ANALYSIS OF CTLA 4 GENE +49A/G AND CT60 A/G POLYMORPHISMS IN ALOPECIA AREATA PATIENTS
CT60 polymorphism might increase the risk of Alopecia Areata.
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 O04 HPV8 E6 leads to Lrig1+ keratinocyte stem cell expansion
HPV8 E6 gene causes growth of certain skin stem cells.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research 496 Identification of differentially expressed miRNAs in alopecia areata that target immune-regulatory pathways
Researchers found that certain miRNAs, which affect immune system regulation, are differently expressed in mice with a hair loss condition compared to healthy mice.