research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
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660-690 / 1000+ results research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research Clinical Snippets
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
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 An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15
research Differential metabolic adaptations define responses of winner and loser oncogenic mutant stem cells in skin epidermisin vivo
Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
research Genetic disorders of keratin: are scarring alopecias a sub-set?
Keratin mutations may cause scarring alopecia by damaging hair structure.
research Vitamin D receptor gene polymorphisms are not associated with alopecia areata
Vitamin D receptor gene variations are not linked to alopecia areata.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Cloning and Characterization of a Mouse Type I Hair Keratin cDNA
research Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers
More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Generation of a Novel Inducible and Dermal Papilla‐Specific Wif1‐CreER Knock‐In Mouse Line for Hair Follicle Research
A new genetic tool improves the study of hair growth and potential hair disorder treatments.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Analysis Polymorphism of Androgen Receptor in Cases of Androgenetic Alopecia
Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research The long and the short of it: evidence that FGF5 is a major determinant of canine ‘hair’‐itability
The FGF5 gene determines hair length in dogs.
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 Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research 131 Mutational landscape of extramammary Paget disease
The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) Affects Keratin 1 and Keratin 17 Gene Expression and Differentially Induces Keratinization in Hairless Mouse Skin
research O04 HPV8 E6 leads to Lrig1+ keratinocyte stem cell expansion
HPV8 E6 gene causes growth of certain skin stem cells.
research Study on genetic polymorphisms of androgen receptor gene and 5α-reductase genes of Han men with androgenetic alopecia in the Eastern China
Shorter GGC triplet repeats in the androgen receptor gene are linked to less hair loss in Han men.
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.