research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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research Biomedical applications of organoids in genetic diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research ROBO4 deletion ameliorates PAF-mediated skin inflammation via regulating the mRNA translation efficiency of LPCAT1/LPCAT2 and the expression of PAF receptor
Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.
research Coexistence of Woolly Hair and Monilethrix: A Cases Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
research In Vitro Biosynthesis of Mouse Hair Keratins Under the Direction of Follicular RNA
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research [Monilethrix--rare syndrome of structural hair abnormalities].
Monilethrix is a rare hair disorder causing beaded, fragile hair, often improving on its own over time.
research [Expressions and effects of autophagy-related genes in bleomycin-induced skin fibrosis of mice].
Activating autophagy might reverse skin fibrosis.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research A symphony of signals: the intricate role of lncRNAs in dermatological disorders
lncRNAs are important for understanding and treating skin diseases.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research RNA modifications: molecular orchestrators of wound healing
RNA modifications help heal wounds and could lead to new treatments.
research Ruxolitinib for the treatment of severe alopecia areata
Ruxolitinib can help regrow hair in severe alopecia areata.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is essential for proper hair structure and color.
research Segmental Vitiligo and Hair Curling After Interferon α and Ribavirin Treatment for Hepatitis C
A woman developed white patches on her skin and curly hair after hepatitis C treatment, likely due to the medication interferon alpha.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Irreversible alopecia universalis during treatment with pegylated interferon-ribavirin for chronic hepatitis C virus infection: Case report and published work review
A man lost all his hair permanently after hepatitis C treatment, a side effect not seen before.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Topical Ruxolitinib for the Treatment of Alopecia Universalis
Topical Ruxolitinib may safely treat severe hair loss.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Off‐Label Use of Topical Ruxolitinib in Dermatology: A Systematic Literature Review and Current Perspectives
Topical ruxolitinib may help some skin conditions but needs more research for alopecia areata.