research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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930-960 / 1000+ results research Abstract 2474: The mechanistic role of polyamines in DNA double-strand break repair
Polyamines help repair DNA breaks and may influence cancer development.
research Author response: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
research Variation in the Exon 3–4 Region of Ovine KRT85 and Its Effect on Wool Traits
KRT85 gene variations can help improve wool traits in sheep through selective breeding.
research IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep
The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
research Methimazole, Carbimazole, and Congenital Skin Defects
Methimazole may cause skin defects in babies if taken during pregnancy.
research Adli Uygulamalarda Yeni Nesil Dizileme Teknolojilerinin Yeri ve Önemi
Next-Generation Sequencing improves forensic analysis by providing detailed genetic information quickly.
research Treatment of Vulvovaginal Erosive and Stenosing Lichen Planus by Surgical Dilatation and Methotrexate
Low-dose methotrexate, combined with surgical and local treatments, effectively treats severe vulvovaginal lichen planus.
research Effects of Hair dyes on Sequence Analysis of Hair Mitochondrial DNA Hypervariable Region 1
Hair dyes affect DNA analysis results, with the prepFiler kit working best for hair with follicles.
research Virtual Bioequivalence Assessment of Ritlecitinib Capsules with Incorporation of Observed Clinical Variability Using a Physiologically Based Pharmacokinetic Model
50-mg ritlecitinib capsules are bioequivalent to 100-mg capsules.
research Partial reversal of androgenetic alopecia with methotrexate therapy for psoriasis.
Methotrexate therapy for psoriasis may help regrow hair in some cases of male pattern baldness.
research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene
Deleting part of a gene in mice causes wavy hair and high pup loss.
research Validation of Replacement of the Synthetic Food Dye 'Sunset Yellow'-Induced Hepatotoxicity and Genotoxicity with the Nutraceutical 'Curcumin' in Mice
Curcumin can safely replace Sunset Yellow as a food colorant.
research Mechanisms of proton inhibition and sensitization of the cation channel TRPV3
Acid can block TRPV3 from outside the cell but boost its function from inside.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research Clinical Translation of Targeted Protein Degraders
Targeted protein degraders show promise in treating cancer but need to target more diverse proteins.
research Correlation and regression analysis of the KRT27 and ELOVL4 genes in cashmere fineness and other production performances in Liaoning cashmere goats
Certain gene combinations improve cashmere quality and production in Liaoning goats.
research The Sodium Valproate: Doctor Jekyll and Mister Hyde
Sodium valproate is effective in treating epilepsy, especially in patients who don't respond to other medications.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research The peach RGF/GLV signalling peptide pCTG134 is involved in a regulatory circuit that sustains auxin and ethylene actions
The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research N-methylformamide induces multiple organ toxicity in Fischer 344 rats
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research Significance of the polyglutamine tract polymorphism in the androgen receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.