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*  Metabolic Complications In An Animal Model Of Congenital Generalized Lipodystrophy Type 2
Mutations in BSCL2 gene underlie human Congenital Generalized Lipodystrophy type 2 (CGL2) diseases. CGL2 is an autosomal ... Mutations in BSCL2 gene underlie human Congenital Generalized Lipodystrophy type 2 (CGL2) diseases. CGL2 is an autosomal ... Metabolic complications in an animal model of congenital generalized lipodystrophy type 2. ... and human congenital generalized lipodystrophy (CGL) and characterized their functions in energy metabolism. In 2012, she was ...
https://www.omicsonline.org/proceedings/metabolic-complications-in-an-animal-model-of-congenital-generalized-lipodystrophy-type-2-61292.html
*  LIPODYSTROPHYCONGENITALGENERALIZEDTYPE2CGL2
CONGENITAL GENERALIZED, TYPE 2 CGL2 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2 ... Genetic Information Center Inborn erros of metabolism LIPODYSTROPHY, ... LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 CGL2 Synonym. BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2. ...
http://www.metagene.de/disease/LIPODYSTROPHYCONGENITALGENERALIZEDTYPE2CGL2_772.html
*  OriGene - AGPAT2 (NM 001012727) Human ORF cDNA Clone
Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a ...
http://www.origene.com/Human_ORF_Clone/RG200622.aspx
*  Leptin to Treat Lipodystrophy - Full Text View - ClinicalTrials.gov
Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy. J ... Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. J Clin Endocrinol ... However, leptin was recently approved by the FDA on February 25, 2014, for use in patients with generalized lipodystrophy. ... Clinically significant lipodystrophy, identified by the study physician during the physical examination as an absence of fat ...
https://clinicaltrials.gov/ct2/show/NCT00025883?term=%22mandibuloacral+dysplasia%22+%5BDISEASE%5D+OR+NCT00025883+%5BID-NUMBER%5D+OR+NCT00715546+%5BID-NUMBER%5D+OR+NCT00677313+%5BID-NUMBER%5D+OR+NCT00457938+%5BID-NUMBER%5D&rank=4
*  Acanthosis Nigricans
https://ghr.nlm.nih.gov/condition/familial-partial-lipodystrophy. https://ghr.nlm.nih.gov/condition/congenital-generalized- ... lipodystrophy. https://ghr.nlm.nih.gov/condition/rabson-mendenhall-syndrome. https://ghr.nlm.nih.gov/condition/donohue-syndrome ...
http://diseaseinfosearch.org/Acanthosis+Nigricans/90
*  Emery-Dreifuss muscular dystrophy
Cardiac findings in congenital muscular dystrophies. Pediatrics 2010; 126:538.. *De Cid R, Ben Yaou R, Roudaut C, et al. A new ... An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am ... De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008; 64:177. ...
https://www.uptodate.com/contents/emery-dreifuss-muscular-dystrophy
*  International Journal of Pharmaceutical Sciences and Drug Research 2014; 6(4): 253-262
Loss of following clinical features (summarized in Table 1) and subcutaneous fat leading to lipodystrophy can start at 6 is ... REFERENCES 1. 8. Hutchinson J. Congenital absence of hair and mammary glands with atrophic condition of the skin and its ... Autopsy some genetic defect causes progeroid syndrome that reports have described varying degrees of generalized interferes ... The utilization of statins and bisphosphonates resulted in reduced lipodystrophy, reduced hair loss, improved bone defects, and ...
http://spotidoc.com/doc/318324/international-journal-of-pharmaceutical-sciences-and-drug...
*  Congenital generalized lipodystrophy - Wikipedia
Congenital Generalized Lipodystrophy, also known as Berardinelli-Seip lipodystrophy was first described in 1954 by Berardinelli ... Congenital generalized lipodystrophy (also known as Berardinelli-Seip syndrome) is an extremely rare autosomal recessive skin ... Khandpur, S. "Congenital generalized lipodystrophy of Berardinelli-Seip type: A rare case". Indian Journal of Dermatology, ... "congenital generalized lipodystrophy". Genetics Home Reference. Retrieved 2017-05-01. Viégas, RF; Diniz, RV; Viégas, TM; Lira, ...
https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy
*  Congenital Generalized Lipodystrophy Accompanied by Cystic Angiomatosis | Annals of Internal Medicine | American College of...
Congenital Generalized Lipodystrophy Accompanied by Cystic Angiomatosis JOHN D. BRUNZELL, M.D.; STEWART W. SHANKLE, M.D.; JOHN ... Five siblings had congenital generalized lipodystrophy and systemic cystic angiomatosis. Manifestations of each disease and a ... Congenital Generalized Lipodystrophy Accompanied by Cystic Angiomatosis. Ann Intern Med. ;69:501-516. doi: 10.7326/0003-4819-69 ... previously overlooked manifestation of congenital lipodystrophy or a new syndrome in a heterogeneous group of lipodystrophy ...
http://annals.org/aim/article-abstract/682630/congenital-generalized-lipodystrophy-accompanied-cystic-angiomatosis
*  Congenital generalized lipodystrophy type 4 | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... and questions answered by our Genetic and Rare Diseases Information Specialists for Congenital generalized lipodystrophy type 4 ... Congenital generalized lipodystrophy type 4 Title Other Names:. Lipodystrophy, congenital generalized, type 4; CGL4; ... Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy; Lipodystrophy, congenital generalized, type 4; ... Lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy; Generalized congenital lipodystrophy with ...
https://rarediseases.info.nih.gov/diseases/10937/congenital-generalized-lipodystrophy-type-4
*  Congenital generalized lipodystrophy type 2 | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... and questions answered by our Genetic and Rare Diseases Information Specialists for Congenital generalized lipodystrophy type 2 ... Congenital generalized lipodystrophy type 2 Title Other Names:. Berardinelli Seip congenital lipodystrophy type 2; Berardinelli ... Congenital. generalized lipodystrophy type 2 was developed as a free service of the National Organization for Rare Disorders ( ... Berardinelli Seip congenital lipodystrophy type 2; Berardinelli syndrome; Total lipodystrophy and acromegaloid gigantism; BSCL2 ...
https://rarediseases.info.nih.gov/diseases/10212/congenital-generalized-lipodystrophy-type-2
*  A mutation in the c-Fos gene associated with congenital generalized lipodystrophy | Orphanet Journal of Rare Diseases | Full...
Congenital generalized lipodystrophy (CGL) or Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic syndrome ... In the most severe form, congenital generalized lipodystrophy (CGL) or Berardinelli-Seip congenital lipodystrophy (BSCL), total ... The main known candidate genes associated with congenital generalized lipodystrophy, i.e. BSCL1/AGPAT2, BSCL2/seipin, BSCL3/ ... Congenital lipodystrophyImmediate early genesProtein/DNA interactionTranscriptional regulation. Introduction. Lipodystrophy can ...
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-119
*  Plus it
AGPAT2 deficiency causes congenital generalized lipodystrophy in humans.. High levels of mouse Agpat2 mRNA are detected in ... Simha V, Garg A. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused ... Agarwal AK, Garg A. Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. Trends Endocrinol ... congenital generalized lipodystrophy (1). An AGPAT2-deficient mouse model has also been developed (26), making AGPAT2 the best- ...
http://ajpendo.physiology.org/content/296/6/E1195
*  PED Flashcards by Dimitrios Drekolias | Brainscape
Congenital generalized lipodystrophy.. ==> Apparent at birth - Infants look VERY MUSCULAR due to absence of fat.. ==> A/w ... In congenital hip dislocation:. ==> Difference in knee height when child is supine w/ knees flexed and feet are flat on exam. ... Benign and congenital nodule, located near the superior aspect of the auricle.. ***approx 2/3 of the way from the bottom of the ... For congenital hip dislocation:. Pt placed in supine position and attempt made to push femurs posteriorly w/ knees at 90o/ hip ...
https://www.brainscape.com/flashcards/ped-6562480/packs/10385697
*  Anti-PTRF antibody (ab78553) | Abcam
Congenital generalized lipodystrophy 4. * Sequence similarities. Belongs to the PTRF/SDPR family. ...
http://www.abcam.com/ptrf-antibody-ab78553.html
*  Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis | SpringerLink
Difficult to manage diabetes mellitus associated with generalized congenital lipodystrophy. Report of two cases. Anales de ... We posit that both inflammatory muscle disease and generalized lipodystrophy in this patient are due to the lamin A/C T10I ... The p.T10I LMNA variant is associated with a phenotype of generalized lipodystrophy that has also been called atypical ... Acquired generalized lipodystrophy (AGL) is characterized by progressive loss of subcutaneous adipose tissue, which starts ...
https://link.springer.com/article/10.1186/s40842-018-0058-3
*  Keystone Symposia | Scientific Conferences on Biomedical and Life Science Topics
Short Talk: Understanding Congenital Generalized Lipodystrophy. Following Session is for Obesity and Adipose Tissue Biology (J4 ...
http://www.keystonesymposia.org/index.cfm?e=web.Meeting.Program&meetingid=1453
*  Keystone Symposia | Scientific Conferences on Biomedical and Life Science Topics
Short Talk: Understanding Congenital Generalized Lipodystrophy. 19:15-20:00 Social Hour with Lite Bites No registration fees ...
https://www.keystonesymposia.org/index.cfm?e=web.Meeting.Program&meetingid=1454
*  CAVIN1 Gene - GeneCards | CAVN1 Protein | CAVN1 Antibody
Diseases associated with CAVIN1 include Lipodystrophy, Congenital Generalized, Type 4 and Congenital Generalized Lipodystrophy ... Congenital generalized lipodystrophy 4 (CGL4) [MIM:613327]: A disorder characterized by the association of congenital ... generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized ... Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. (PMID: 20684003) ...
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CAVIN1
*  Liver Disease | MedlinePlus
... congenital generalized lipodystrophy (National Library of Medicine) * Genetics Home Reference: congenital hepatic fibrosis ( ... Genetics Home Reference: congenital bile acid synthesis defect type 1 (National Library of Medicine) ... Genetics Home Reference: congenital bile acid synthesis defect type 2 (National Library of Medicine) ...
https://medlineplus.gov/liverdiseases.html?utm_source=mplusconnect&utm_medium=service
*  Berardinelli syndrome | definition of Berardinelli syndrome by Medical dictionary
... congenital generalized lipodystrophy).. Keywords: Berardinelli syndrome, congenital generalized lipodystrophy, insulin ... congenital total lipodystrophy. (redirected from Berardinelli syndrome) con·gen·i·tal to·tal lip·o·dys·tro·phy. [MIM*269700] ... a href='https://medical-dictionary.thefreedictionary.com/Berardinelli+syndrome',congenital total lipodystrophy,/a,. *Facebook ...
https://medical-dictionary.thefreedictionary.com/Berardinelli+syndrome
*  Seipin - Wikipedia
Seipin mutations have been associated with congenital generalized lipodystrophy (see below), and mutations in an N- ... Patni, Nivedita; Garg, Abhimanyu (2015-09-01). "Congenital generalized lipodystrophies-new insights into metabolic dysfunction ... congenital generalized lipodystrophy) is a heterogeneous genetic disorder characterized by almost complete loss of adipose ... Of the four CGL types, BSCL2 (Berardinelli-Seip Congenital lipodystrophy type 2), resulting from mutations in the BSCL2/seipin ...
https://en.wikipedia.org/wiki/Seipin
*  Case report: Dental management of Berardinelli-Seip congenital lipodystrophy | SpringerLink
Background Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive condition caused by mutations ... Bennett T, Allford M. Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip ... Berardinelli-Seip congenital lipodystrophy Dental management This is a preview of subscription content, log in to check access. ... Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive condition caused by mutations of the ...
https://link.springer.com/article/10.1007%2Fs40368-015-0210-z
*  Human Metabolome Database: Showing metabocard for Creatinine (HMDB0000562)
Lipodystrophy, Congenital Generalized. *Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, ... Familial partial lipodystrophy. *Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, ... Partial lipodystrophy. *Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali ... Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RD: A new syndrome of congenital hypoparathyroidism, severe growth ...
http://www.hmdb.ca/metabolites/HMDB0000562
*  Human Metabolome Database: Showing metabocard for Cholesterol (HMDB0000067)
Lipodystrophy, Congenital Generalized. *Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, ... Lipodystrophy. *Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen ... Familial partial lipodystrophy. *Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, ... Partial lipodystrophy. *Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali ...
http://www.hmdb.ca/metabolites/HMDB0000067