research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study
SQSTM1 gene issues may increase the risk of alopecia areata.
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research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
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 Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis
research DEFINING THE ROLE OF ABI1 GENE IN PROSTATE CANCER PROGRESSION AND TREATMENT RESISTANCE
The ABI1 gene contributes to prostate cancer progression and treatment resistance.
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 Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research 057 Single cell RNA and TCR sequencing reveals hyperexpansion of T cell clones and novel regulatory mechanisms of CD8+ T cells in murine alopcecia areata skin and draining lymph nodes
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Genetic Upregulation of Activated Protein C Mitigates Delayed Effects of Acute Radiation Exposure in the Mouse Plasma
Activated protein C helps protect mice from radiation damage.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron.
TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
research Disruption of tubular Flcn expression as a mouse model for renal tumor induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Inactivation of the Vitamin D Receptor Enhances Susceptibility of Murine Skin to UV-Induced Tumorigenesis
Mice without the vitamin D receptor are more prone to UV-induced skin tumors.
research Research Snippets
New hair regrowth model proposed, imiquimod found to kill skin cancer cells, T-cadherin loss linked to invasive skin cancer, no clear gene link to skin cancer after transplant, and study on children's hair loss shows male dominance and genetic ties.
research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study
The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle
Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research METTL1-mediated m7G tRNA modification drives papillary thyroid cancer progression and metastasis by regulating the codon-specific translation of TNF-α
Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.