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.
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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 Generalized Woolly Hair: Case Report and Literature Review
Woolly hair is a rare genetic condition with no effective treatments.
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 The Metabolic Syndrome-Associated Small G Protein ARL15 Plays a Role in Adipocyte Differentiation and Adiponectin Secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
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 Analysis of 72,469 UK Biobank Exomes Links Rare Variants to Male-Pattern Hair Loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
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 WNT10A, Dermatology and Dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research The Vitamin B5/Coenzyme A Axis: A Target for Immunomodulation?
Vitamin B5 and coenzyme A may help regulate the immune system and could improve treatments for chronic diseases and cancer.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
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 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 Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Exploring the Efficacy of Testosterone Undecanoate in Male Children with 5α-Reductase Deficiency
Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
research Wnt/β-Catenin Signaling Stabilizes Hemidesmosomes in Keratinocytes
Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Gene Network Analysis Reveals Candidate Genes Related to Hair Follicle Development in Sheep
Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
research Atrichia With Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.