research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
Search
for
Sort by
Research
780-810 / 1000+ resultsresearch Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research Medical Dermatology
Early diagnosis, innovative treatments, and considering systemic conditions are crucial in dermatological care.
research Nanozyme Catalysis Restores Hair Follicle Integrity by Reversing Peroxisomal Collapse.
Nanozymes can restore hair growth by fixing peroxisomal function.
research Uncovering the genetic architecture and evolutionary roots of androgenetic alopecia in African men
Genetic predictions of baldness in Europeans don't apply well to African men.
research Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study
Certain genetic variants may increase the risk of developing PCOS.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Wnt/β-Catenin Signaling Stabilizes Hemidesmosomes in Keratinocytes
Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
research Abstracts from the 55th European Society of Human Genetics (ESHG) 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 Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells
Injecting specific cells into the skin can help improve skin structure and reduce blisters in a genetic skin disorder.
research Regulatory pathway analysis of coat color genes in Mongolian horses
Genes influence horse coat color and may help understand human skin conditions.
research Integrative transcriptomic and metabolomic analyses reveal the role of melatonin in promoting secondary hair follicle development in cashmere goats
Melatonin improves cashmere quality and yield in goats by enhancing hair follicle development.
research Fundamental Concepts and Novel Aspects of Polycystic Ovarian Syndrome: Expert Consensus Resolutions
PCOS affects health and quality of life, with effective treatments available and a need for more research on alternative therapies.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research SLE classification criteria item relationships: implications on SLE as a disease entity
SLE is likely one disease with various symptoms, not multiple distinct diseases.
research Effects of KRTAP20-1 Gene Variation on Wool Traits in Chinese Tan Sheep
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Society for Endocrinology guidelines for testosterone replacement therapy in male hypogonadism
Testosterone replacement is recommended for men with low testosterone levels and symptoms of hypogonadism.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Monitoring of clinical signs in goats with transmissible spongiform encephalopathies
Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
research PTEN Mediates Activation of Core Clock Protein BMAL1 and Accumulation of Epidermal Stem Cells
PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Overexpression of hepatoma-derived growth factor in melanocytes does not lead to oncogenic transformation
Overexpression of HDGF in melanocytes does not cause cancer.