research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
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research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Evaluation of loci to predict ear morphology using two SNaPshot assays
Genetic markers can help predict ear shapes for forensic use.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Dissecting hair breakage in alopecia areata: the central role of dysregulated cysteine homeostasis
Disrupted cysteine metabolism may cause hair breakage in Alopecia Areata, suggesting potential treatments like N-acetylcysteine.
research A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism
The method effectively extracts high-quality DNA from marmoset hair, avoiding blood chimerism.
research Sparse haplotype-based fine-scale local ancestry inference at scale reveals recent selection on immune responses
Recent selection on immune response genes was identified across seven ethnicities.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
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 Genetic, hormonal and metabolic aspects of PCOS: an update
The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
research Kinase Inhibition with BAY 43–9006 in Renal Cell Carcinoma
BAY 43-9006 helps control kidney cancer growth but doesn't significantly increase overall survival.
research The Rotterdam Study: 2010 objectives and design update
The Rotterdam Study aims to understand various diseases in older adults.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Physiologic functions of PP2A: Lessons from genetically modified mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research Sulphation catalysed by the human cytosolic sulphotransferases - chemical defence or molecular terrorism?
Human enzymes can detoxify harmful substances but might also increase their cancer risk.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research The biology of hair diversity
Hair diversity is influenced by complex genetics and environmental factors, requiring more research for practical solutions.
research Fibroblast growth factor 5-short (FGF5s) inhibits the activity of FGF5 in primary and secondary hair follicle dermal papilla cells of cashmere goats
FGF5s can block the effects of FGF5, which may help control hair growth in cashmere goats.
research Generation of Cashmere Goats Carrying an EDAR Gene Mutant Using CRISPR-Cas9-Mediated Genome Editing
CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
research The Effect of Parathyroid Hormones on Hair Follicle Physiology: Implications for Treatment of Chemotherapy-Induced Alopecia
Parathyroid hormones are important for hair growth, but their use in treating hair loss from chemotherapy is still uncertain.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
Genetic factors influence growth and brain development in children.
research Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer
Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
research Genetic variations associated with response to dutasteride in the treatment of male subjects with androgenetic alopecia
Genetic variations affect dutasteride treatment response for male pattern hair loss.
research A symphony of signals: the intricate role of lncRNAs in dermatological disorders
lncRNAs are important for understanding and treating skin diseases.
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Cutaneous signals of immune system disease
Skin issues can indicate immune system problems.
research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.