research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
Search
for
Sort by
Research
90-120 / 1000+ resultsresearch Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice
K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
research The mouse keratin 6 isoforms are differentially expressed in the hair follicle, footpad, tongue and activated epidermis
Mouse keratin 6 isoforms have different expression patterns in various tissues.
research S100A6: molecular function and biomarker role
S100A6 is important for cell functions and can help diagnose and treat diseases.
research A Transition State Analogue of 5′-Methylthioadenosine Phosphorylase Induces Apoptosis in Head and Neck Cancers
MT-DADMe-ImmA can selectively kill head and neck cancer cells without harming normal cells.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research Expression of MK6a dominant-negative and C-terminal mutant transgenes in mice has distinct phenotypic consequences in the epidermis and hair follicle
Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease
Histone demethylases can change gene expression and may be linked to diseases like cancer.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research 266 Myristoylphorbol Acetate (MPA) Enhances Metastasis Via Up-regulation of Eph A2 Transcription Activity
MPA increases cancer spread by boosting Eph A2 activity.
research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Dynamic changes of genomic methylation profiles at different growth stages in Chinese Tan sheep
DNA methylation changes in Tan sheep affect growth and fur traits.
research 316 Specialized ribosomes in human dermal fibroblast senescence
Specialized ribosomes affect aging in human skin cells.
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 Association of methionine synthase gene polymorphisms with wool production and quality traits in Chinese Merino population12
The MTR gene affects wool quality and production in Chinese Merino sheep.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Identification and Characterization of Two Se6OMTs from Stephania epigaea Offer Novel Insights into the Biosynthetic Pathway of Cepharanthine
The research found enzymes in Stephania epigaea that help make cepharanthine.
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 Transcriptional regulation analysis and the potential transcription regulator site in the extended KAP6.1 promoter in sheep
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Overexpression of spermidine/spermine N1-acetyltransferase under the control of mouse metallothionein I promoter in transgenic mice: evidence for a striking post-transcriptional regulation of transgene expression by a polyamine analogue
Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
research Spermidine/spermine-N1-acetyltransferase: a key metabolic regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.