research Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
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research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Μελέτη των πολυμορφισμών IΙe 49 Ser του γονιδίου της αντιμυλλεριανικής ορμόνης (ΑΜΗ) ΚΑΙ 482 Α>G του υποδοχέα τύπου ΙΙ της αντιμυλλεριανικής ορμόνης (AMHR) σε γυναίκες με σύνδρομο των πολυκυστικών ωοθηκών (PCOS)
The AMHR2-482A>G gene change is linked to higher PCOS risk.
research For early diagnosis of young patients with Werner syndrome: Indication for genetic testing
Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Secondary amenorrhoea with absent axillary hair
The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research Sertoli-Leydig tumor in a 17-year-old girl: a case report
A 17-year-old girl was diagnosed with a rare ovarian tumor, emphasizing the need for fertility preservation and psychosocial care.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Klinefelter syndrome and chronic leg ulcers
A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
research SUN-105 A Classic Case of Ovarian Hyperthecosis
Ovarian hyperthecosis can cause high testosterone and symptoms like hair loss, and surgery can help improve these symptoms.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Cronkhite-Canada Syndrome Associated With Superficial Esophageal Carcinoma: A Case Report and Literature Review
Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Short anagen syndrome in a girl with curly dark hair and consanguineous parents
A 3-year-old girl has short anagen syndrome, causing her hair to stay short.
research Dyad of infantile cutaneous and thymic Langerhans cell histiocytosis: Is it rare?
Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.