research Examination of Androgenetic Alopecia with Serum Biomarkers
Serum biomarkers like insulin-like growth factor-1 and vitamin D may help diagnose androgenetic alopecia.
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research T-Cell Reconstitution After Thymus Xenotransplantation Induces Hair Depigmentation and Loss
T-cell reconstitution after thymus transplantation can cause hair whitening and loss.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Study of the Thyroid Profile of Patients with Alopecia
People with hair loss conditions may also have thyroid disorders, but more research is needed to understand the connection.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Case of Alopecia Universalis Accompanied by Minimal Change Nephrotic Syndrome
A possible link exists between minimal change nephrotic syndrome and complete hair loss.
research Interleukin-15 Is a Hair Follicle Immune Privilege Guardian
Interleukin-15 can help hair growth and protect hair follicles.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Skin Amidst COVID-19 Pandemic
COVID-19 can cause various skin issues, including rashes and 'COVID toes', and may worsen autoimmune diseases or affect men with baldness more severely.
research Alopecia Areata as a Clinical Manifestation of Autoimmune Inflammation Due to Vitamin D Deficiency
Lack of vitamin D might cause hair loss due to autoimmune problems, and fixing vitamin D levels could help treat it.
research High Throughput T Cell Receptor Sequencing Identifies Clonally Expanded CD8+ T Cell Populations in Alopecia Areata
Expanded CD8+ T cells are linked to Alopecia Areata and may cause relapse after treatment.
research A Case of Ayme-Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
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 Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Quantification of Squalene and Lactic Acid in Hair Bulbs with Damaged Sheaths: Are They Metabolic Wastes in Alopecia?
Squalene may be a marker for certain types of alopecia.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Environmental Pathobiology of Frontal Fibrosing Alopecia: A Link Between Linalool Sensitization and FFA Development
Being allergic to linalool, a common fragrance ingredient, might contribute to developing frontal fibrosing alopecia.
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 Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
research Uncombable Hair Syndrome Due to Maternal Uniparental Disomy of Chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Environmental Pathobiology of Frontal Fibrosing Alopecia: Does Linalool Promote FFA Development and Progression?
Linalool in personal care products may contribute to hair loss by damaging hair follicle stem cells and triggering harmful immune responses.
research A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.