research Disruption of tubular Flcn expression as a mouse model for renal tumor induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
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research The role of serotonin, ferritin, and hematological profiles in female pattern hair loss
Iron deficiency is linked to female pattern hair loss.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
research A POTENTIAL RELATION BETWEEN TELOGEN EFFLUVIUM AND IRON DEFICIENCY IN ADULT FEMALES
Low iron levels are linked to hair loss in adult women.
research Carence en fer et troubles digestifs
Iron deficiency can cause fatigue, exercise intolerance, and cognitive issues, even without anemia.
research Evidence Suggesting a Role of Iron in a Mouse Model of Nephrogenic Systemic Fibrosis
Iron contributes to skin fibrosis in nephrogenic systemic fibrosis.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Female pattern hair loss
FPHL is a common, age-related, genetic hair loss with unclear causes and limited treatment options.
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 Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Characterization of the Role of Transferrin receptor 1 (Tfr1) in the Intestinal Epithelium, Pancreas, and Skin
Transferrin receptor 1 is essential for normal function in the intestines, pancreas, and skin.
research Pili annulati with fragility: Electron microscopic findings of a case
The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Hair Shaft Abnormalities. Pili Bifurcati: A Scanning Electron Microscopy Analysis
The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
research TON1 recruiting motif 21 positively regulates the flavonoid metabolic pathway at the translational level in Arabidopsis thaliana
TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research Loss of Memo, a novel FGFR regulator, results in reduced lifespan
Losing Memo protein shortens lifespan and affects health.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research 321 Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.