research Lucio Phenomenon: Sequelae of Neglected Leprosy
Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.
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870-900 / 1000+ results 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 Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research TCF/Lef1-Mediated Control of Lipid Metabolism Regulates Skin Barrier Function
TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research DPP-4 inhibition with linagliptin ameliorates the progression of premature aging in klotho−/− mice
Linagliptin slows down premature aging in certain mice.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Generalised Glucocorticoid Resistance
Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
research 554 Repurposing a clinical antimalarial for the therapeutic induction of lethal ER stress targeting BRAF-kinase inhibitor-resistant malignant melanoma
Mefloquine, an antimalarial drug, is effective in killing melanoma cells resistant to other treatments by causing lethal stress in the cells.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Tissue insulin sensitivity and body weight in polycystic ovary syndrome
Lean and obese women with PCOS have similar levels of insulin resistance, indicating it's a core aspect of the condition.
research EX VIVO DRUG SENSITIVITY EVALUATION OF A RARE ZMYM2::FGFR1+ LEUKEMIA PATIENT
Pemigatinib may be effective for treating ZMYM2::FGFR1 fusion-positive leukemia.
research Nilotinib-induced generalized keratosis pilaris: Report of a rare case
Nilotinib can cause generalized keratosis pilaris.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Changes in Prolactin and Insulin Resistance in PCOS Patients Undergoing Metformin Treatment: A Retrospective Study
Lower baseline prolactin levels may lead to better insulin resistance improvement with metformin in PCOS patients.
research Treatment of Lipodystrophy with Troglitazone
Troglitazone increases subcutaneous fat in lipodystrophy patients.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Insulin Resistance, Acanthosis Nigricans, and Polycystic Ovaries Associated with a Circulating Inhibitor of Postbinding Insulin Action
A circulating inhibitor caused insulin resistance, but clomiphene improved symptoms.
research Leprosy on the scalp
A man from Brazil had a rare case of leprosy on his scalp, which improved with treatment.
research Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss
MC4R gene variants not linked to female hair loss.
research Adolescent's Hair Loss due to Levetiracetam
A teenager lost hair after starting epilepsy medication levetiracetam.
research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice
PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
research Treatment of insulin resistance with tirzepatide leading to improvement of hair loss
Tirzepatide may improve hair loss by reducing insulin resistance.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease”
The woman was misdiagnosed with Graves Disease, leading to incorrect treatment, while she actually had Pituitary Resistance to Thyroid Hormone.
research Genomic and transcriptomic landscape to decipher the genetic basis of hyperpigmentation in Lanping black-boned sheep (Ovis aries)
Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.