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About 835 results

ALLMedicine™ Progeria Center

Research & Reviews  311 results

Werner Syndrome
https://emedicine.medscape.com/article/1114125-overview

Jun 21st, 2022 - Practice Essentials Otto Werner originally defined Werner syndrome (WS) in 1904 on the basis of sclerodermalike, thin, tight skin and bilateral cataracts. WS is also known as progeria adultorum, progeria of the adult, and pangeria. WS is the most ...

Werner Syndrome
https://emedicine.medscape.com/article/1114125-print

Jun 21st, 2022 - Practice Essentials Otto Werner originally defined Werner syndrome (WS) in 1904 on the basis of sclerodermalike, thin, tight skin and bilateral cataracts. WS is also known as progeria adultorum, progeria of the adult, and pangeria. WS is the most ...

Werner Syndrome
http://emedicine.medscape.com/article/1114125-overview

Jun 21st, 2022 - Practice Essentials Otto Werner originally defined Werner syndrome (WS) in 1904 on the basis of sclerodermalike, thin, tight skin and bilateral cataracts. WS is also known as progeria adultorum, progeria of the adult, and pangeria. WS is the most ...

Transient expression of an adenine base editor corrects the Hutchinson-Gilford progeria...
https://doi.org/10.1038/s41467-022-30800-y 10.1161/CIRCULATIONAHA.116.022188 10.1056/NEJMoa0706898 10.1161/CIRCULATIONAHA.113.008285 10.1080/pdp.21.1.1.13 10.1016/S0022-3476(72)80229-4 10.1159/000247175 10.1111/j.1525-1470.1991.tb00859.x 10.1242/jcs.114.1.9 10.1046/j.1525-1470.2000.01775.x 10.1002/(SICI)1096-8628(19990129)82:3<242::AID-AJMG9>3.0.CO;2-E 10.1007/s00431-005-1635-x 10.1136/jmg.2004.019661 10.1038/nature01629 10.1126/science.1084125 10.1073/pnas.192460799 10.1073/pnas.0611640104 10.1073/pnas.0700854104 10.1073/pnas.0402943101 10.1073/pnas.1202529109 10.1073/pnas.0807840105 10.1038/s41591-018-0338-6 10.1038/s41591-019-0343-4 10.1038/nature24644 10.1038/s41586-020-03086-7 10.1038/nbt.4148 10.1016/j.ymthe.2020.12.031 10.1016/j.ymthe.2020.10.018 10.1038/s41587-020-0741-7 10.1242/jcs.022913 10.1111/j.1474-9726.2011.00743.x 10.1111/acel.12173 10.1242/jcs.022913 10.1038/mtm.2015.39 10.1038/s41587-019-0050-1 10.1093/bioinformatics/btu048 10.1016/j.jss.2013.03.051 10.1101/gr.2.4.346 10.1016/j.jviromet.2008.07.029 10.1038/ncb3359 10.1038/ejhg.2008.270 10.1038/s41467-019-13018-3 10.1016/j.ceb.2015.05.007 10.1046/j.1523-1747.1999.00535.x 10.3390/ijms141019385 10.1016/j.jid.2019.05.005 10.1016/j.gde.2004.07.002 10.1038/nature11393 10.1242/dev.00703 10.1089/1066527041410418 10.1186/s12859-018-2585-4 10.1093/bioinformatics/btw561 10.1038/s41598-017-04492-0 10.1096/fj.14-269217
Nature Communications; Whisenant D, Lim K et. al.

Jun 3rd, 2022 - Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder caused by a point mutation in the LMNA gene (LMNA c.1824 C > T), resulting in the production of a detrimental protein called progerin. Adenine base editors recently em...

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-letha...
https://doi.org/10.1016/j.gene.2022.146582
Gene Schaflinger E, Blatterer J et. al.

May 22nd, 2022 - Biallelic mutations in ZMPSTE24 are known to be associated with autosomal recessive mandibuloacral dysplasia with type B lipodystrophy (MADB) and lethal restrictive dermopathy (RD), respectively. Disease manifestation is depending on the remaining...

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Drugs  1 results see all →

Clinicaltrials.gov  1 results

Once Daily Dosing of Lonafarnib Co-administered With Ritonavir for Treatment of Chronic Hepatitis D Virus Infection
https://clinicaltrials.gov/ct2/show/NCT05229991

Feb 8th, 2022 - Background: Hepatitis D virus (HDV) was identified as the infectious agent causing viral hepatitis in the presence of hepatitis B virus (HBV). While HDV can replicate autonomously inside the hepatocyte, the virus requires co-infection with HBV to ...

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News  20 results

FDA Approvals, Highlights, and Summaries: Pediatrics
https://reference.medscape.com/viewarticle/945192

Feb 24th, 2021 - Pediatric Endocrinology Zokinvy (lonafarnib) Lonafarnib, an oral farnesyltransferase inhibitor, is indicated to reduce the risk of mortality in Hutchinson-Gilford progeria syndrome (HGPS). It was also approved for processing-deficient progeroid la...

FDA Approvals, Highlights, and Summaries: Endocrinology
https://reference.medscape.com/viewarticle/945183

Feb 24th, 2021 - Zokinvy (lonafarnib) Lonafarnib, an oral farnesyltransferase inhibitor, is indicated to reduce the risk of mortality in Hutchinson-Gilford progeria syndrome (HGPS). It was also approved for processing-deficient progeroid laminopathies with heteroz...

Adult soft tissue sarcoma: Professional resources from the National Cancer Institute
https://www.mdedge.com/hematology-oncology/article/164476/angiosarcoma/adult-soft-tissue-sarcoma-professional-resources

Apr 28th, 2018 - Adult Soft Tissue Sarcoma Treatment (PDQ®)–Health Professional Version General Information About Adult Soft Tissue Sarcoma Go to Patient Version Incidence and Mortality Estimated new cases and deaths from soft tissue sarcoma in the United States i.

Prehospital Cardiac Arrest Tx; Prior Authorization Findings; Progeria Tx
https://www.medpagetoday.com/cardiology/prevention/72570

Apr 27th, 2018 - Advanced life support on the way to the hospital for people in cardiac arrest from blunt trauma in a traffic accident has better outcomes than basic life support, especially when done by a physician, a Japanese national registry study reported. (J...

Progeria Often Comes with Silent LV Dysfunction
https://www.medpagetoday.com/cardiology/chf/71312

Feb 22nd, 2018 - The early cardiovascular death typical of Hutchinson-Gilford progeria syndrome may hide a surprising level of asymptomatic left ventricular (LV) diastolic dysfunction, researchers found. In a single-center series of 27 consecutive patients, ages 2...

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Patient Education  1 results see all →