research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
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research Pachyonychia Congenita: Sporadic Onset With Mutation Analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research The Biology and Genomics of Human Hair Follicles: A Focus on Androgenetic Alopecia
Hair loss in Androgenetic Alopecia is caused by genetics, aging, and lifestyle, leading to hair follicle shrinkage and related health risks.
research HDAC6-Dependent Deacetylation of NGF Dictates Its Ubiquitination and Maintains Primordial Follicle Dormancy
HDAC6 helps keep ovarian follicles dormant, extending female fertility.
research Small Molecule Inhibitors and Inflammatory Skin Diseases
New drugs targeting the JAK-STAT pathway show promise for treating inflammatory skin diseases.
research Observations Suggesting a Contribution of Altered Dermal Papilla Mitochondrial Function to Androgenetic Alopecia
Hair loss in men might be linked to changes in cell energy factories.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Androgen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control Study
No clear link between androgen receptor variation and hair loss, but more research needed.
research An Interview with Drs. Felix Brockschmidt and Markus Nöthen About the Genetics of Androgenetic Alopecia
research Short Anagen Hair Syndrome: Association With Mono- and Biallelic Variants in WNT10A and a Genetic Overlap With Male Pattern Hair Loss
Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Dissection of Genetic Variation and Evidence for Pleiotropy in Male Pattern Baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Genes of Congenital Dermatologic Disorders in Dogs: A Review
Over half of the dog skin disorders discussed have known gene variants, enabling genetic testing for diagnosis and responsible breeding.
research Lichen Planus Pigmentosus and Its Variants: Review and Update
Lichen planus pigmentosus causes dark skin patches and is treated by avoiding triggers and using anti-inflammatory medications.
research WNT10A Gene Variants at the Root of Short Anagen Hair Syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Grey, Curly, and Short-Haired Swiss Holstein Cattle Show Genetic Traces of the Simmental Breed
Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
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 Genetic Association of HLA-DQB1 and HLA-DRB1 Polymorphisms with Alopecia Areata in the Italian Population
The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
research Panfolliculoma: Report of the Youngest Case and Literature Review of Its Histopathologic Variants
A 14-year-old boy is the youngest person reported with a rare, benign tumor related to hair follicles, usually found in older people.
research 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 Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Dermatological Diseases from a Genetic Perspective
New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research Coinheritance of BRCA2 and CYLD Germline Pathogenic Variants Associated with Targetable Metastatic Malignant Cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Molecular Epidemiology of Hypospadias: Review of Genetic and Environmental Risk Factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.