research Variation in the caprine keratin-associated protein 15-1 (KAP15-1) gene affects cashmere fibre diameter
The KRTAP15-1 gene affects cashmere fiber thickness in goats.
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research Genetic ablation of myelin protein zero-like 3 in mice increases energy expenditure, improves glycemic control, and reduces hepatic lipid synthesis
Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research Development of a new therapeutic approach based on peptide nanoparticles delivering CRISPR-Cas9 for the specific targeting of KRAS mutations
Peptide nanoparticles can effectively deliver CRISPR-Cas9 to target KRAS mutations in cancer.
research DNA Damage Response Mediates Pressure Overload–Induced Cardiomyocyte Hypertrophy
Targeting ATM could help manage heart cell enlargement due to pressure overload.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Alopecia Areata is associated with MICA and an extended HLA haplotype
Certain genes are linked to the risk of developing Alopecia Areata.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research Gene and tonic: Sonic hedgehog disruption and fetal alcohol syndrome
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness
A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
research Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development
Fatty acid transport protein 4 is essential for skin and hair development.
research Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Polymorphism of keratin-associated protein (KAP) 7 gene and its association with wool traits in Rambouillet sheep
The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.
research Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes
New genes and markers can help breed better cashmere goats.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research Emergence of hereditary hyperplastic gingivitis in Newfoundland and Labrador, Canada: an exploration into the molecular aetiology at both the gene and genome levels
Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
research Cardiac Outflow tract septation defects in a DiGeorge syndrome model respond to Minoxidil treatment.
Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Fine mapping of the human AR/EDA2R locus in androgenetic alopecia
Genetic marker rs12558842 strongly linked to male hair loss.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
research Monilethrix: A rare hereditary condition
Monilethrix is a rare genetic hair disorder that's hard to treat.
research Genetic Fate Mapping Using Site-Specific Recombinases
The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
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
Overexpression of SSAT in mice causes hair loss, liver damage, and sensitivity to polyamine analogues.
research Cross‐linked features of mouse pelage hair resistant to detergent extraction
Two mouse mutants have defective hair cuticle cross-linking.