research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
Search
for
Sort by
Research
660-690 / 1000+ results research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
Mutation in hairless gene may increase hair loss risk.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
Mutation in hairless gene may increase hair loss risk.
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
research WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research P5 Assembly of hair keratins in thansfected cultured cells
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research K31 as a novel marker for clear secretory cells in human eccrine sweat glands
K31 can identify clear secretory cells in human sweat glands.
research Author response: Type XVII collagen coordinates proliferation in the interfollicular epidermis
Type XVII collagen helps control skin cell growth and may have anti-aging effects.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Data from Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of <i>Retinoblastoma</i> and <i>Trp53</i> Tumor Suppressors
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
research Generation of the Krt24-CreERT2 Mouse Line Targeting Outer Bulge Hair Follicle Cells
The study created a mouse model to better understand hair follicle stem cells' role in hair growth and repair.
research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
A mutation in mice causes hair loss and immune problems.
research Knockout of p16INK4a promotes aggregative growth of dermal papilla cells
Removing p16INK4a from skin cells can lead to faster and more clumped growth, which might help with hair growth.
research Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib
Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research The E211 G>A Androgen Receptor Polymorphism Is Associated with a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.