research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
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research Uncovering the complex relationship between balding, testosterone and skin cancers in men
Men with baldness are more prone to skin cancers on the scalp due to sun exposure, not testosterone.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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 Male-pattern baldness and incident coronary heart disease and risk factors in the Heinz Nixdorf Recall Study
Male-pattern baldness is weakly linked to some heart disease risk factors but not a strong indicator for heart disease.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Update on the Genetics of Androgenetic Alopecia, Female Pattern Hair Loss, and Alopecia Areata: Implications for Molecular Diagnostic Testing
Genetic factors affect hair loss, and molecular testing may help predict, diagnose, and treat it.
research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study
The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Current Perspectives on Less-known Aspects of Headache
New insights on headaches include genetics, smartphone impact, and botulinum toxin treatment.
research Comparative Gene Expression Profiling of Senescent and Androgenetic Alopecia Using Microarray Analysis
SA linked to mitochondrial issues and oxidative stress, while AGA involves disrupted hair growth genes.
research Discovery of genes and proteins possibly regulating mean wool fibre diameter using cDNA microarray and proteomic approaches
Researchers identified genes and proteins that may influence wool thickness in sheep.
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 Discovery of differentially expressed genes in cashmere goat (Capra hircus) hair follicles by RNA sequencing
Researchers found 617 genes that behave differently in cashmere goat hair follicles, which could help understand hair growth.
research Regulatory T cell dysfunction and immunotherapeutic breakthroughs in type 1 diabetes
Next-generation Treg therapies could help achieve lasting immune tolerance in type 1 diabetes.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Comprehensive Survey of Gut Microbiome Associations with Health Conditions in the Human Phenotype Project
Certain gut microbes are linked to better health in 14 conditions.
research Genomic Analysis of Trichotillomania
Trichotillomania may have a genetic link to psychiatric disorders.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research Potential genetic associations of acne scar phenotypes: IL1A in fibrotic scarring and CYB5R1 in atrophic scarring
CYB5R1 and IL1A genes may be linked to different types of acne scars.
research Latent transforming growth factor beta-binding protein 1 (LTBP1): roles as a multifunctional extracellular matrix regulator in human disease. From molecular mechanisms to clinical translation prospects
LTBP1 is a key regulator in diseases and a potential target for new treatments.
research Ectodysplasin-A (EDA) Signaling Cross-Talk in Skeletogenesis
The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
research The genetic basis of dermatophytosis skin infection susceptibility
Genetic factors, skin barrier, immune function, and obesity influence risk of fungal skin infections.
research Mendelian Randomization Identifies CD25+ CD4+ Tregs and Plasma Proteins in Androgenetic Alopecia Pathogenesis
Immune cells and plasma proteins are linked to hair loss, suggesting new treatment options.
research Exploring the Causal Relationship Between Plasma Proteins and Obstructive Sleep Apnea: A Study Using Genome-Wide Mendelian Randomization, Single-Cell RNA Sequencing Analysis, and Network Pharmacology
Certain plasma proteins and genes are linked to obstructive sleep apnea, suggesting potential new treatments.
research Understanding Polycystic Ovary Syndrome
PCOS affects women's hormones and metabolism, but can be managed with lifestyle changes and treatments.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Investigating RNA-Seq-based differential gene expression during hair follicle development in Angora goat skin
Angora goat hair growth is influenced by gene expression, sex hormones, and breed differences.