نتایج جستجو برای: seip lypodystrophy

تعداد نتایج: 181  

Journal: :Advances in Mathematics 2022

We provide a solution to Perelomov's 1972 problem concerning the existence of phase transition (known in signal analysis as ‘Nyquist rate’) determining basis properties certain affine coherent states labelled by Fuchsian groups. As suggested Perelomov, is given according hyperbolic volume fundamental region. The more general form (in space) PSL(2,R) variant 1989 conjecture Kristian Seip about w...

Journal: :Clinical genetics 2002
S Bhayana V M Siu G I Joubert C L Clarson H Cao R A Hegele

Molecular genetic studies have pointed to a relationship between congenital lipodystrophy syndromes and some cardiac disorders. For instance, mutations in LMNA cause either lipodystrophy or cardiomyopathy, indicating that different mutations in the same gene can produce these clinical syndromes. The present authors describe a 10-year-old female with Berardinelli-Seip congenital complete lipodys...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2014
Min Jiang Mingming Gao Chaoming Wu Hui He Xuejiang Guo Zuomin Zhou Hongyuan Yang Xinhua Xiao George Liu Jiahao Sha

Obesity impairs male fertility, providing evidence for a link between adipose tissue and reproductive function; however, potential consequences of adipose tissue paucity on fertility remain unknown. Lack of s.c. fat is a hallmark of Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), which is caused by mutations in BSCL2-encoding seipin. Mice with a targeted deletion of murine seipin mod...

2004
Gunnar Sandvik Christine M. Jessup Knut L. Seip Brendan J. M. Bohannan

Gunnar Sandvik,* Christine M. Jessup, Knut L. Seip and Brendan J. M. Bohannan Department of Environmental Technology, Høgskolen i Telemark, Porsgrunn, Norway Department of Biological Sciences, Stanford University, Stanford, CA, USA *Correspondence: E-mail: [email protected]; [email protected] Abstract Identifying interactions among organisms is central to the study of ecology. The An...

2013
Obaid Ur Rahman Nadeem Khawar Muhammad Aman Khan Jawad Ahmed Kamran Khattak Jumana Yousuf Al-Aama Muhammad Naeem Musharraf Jelani

BACKGROUND Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2...

2017
Yajie Zhang Hongyan Long Fuqiong Zhou Weina Zhu Jie Ruan Yang Zhao Yan Lu

Parkinson's disease (PD) is one of the most common neurodegenerative diseases. Recent epidemiological studies suggest that echinacoside (ECH), a phenylethanoid glycoside found in Cistanche deserticola, has a protective effect against the development of PD. However, the detailed mechanisms of how ECH suppresses neuronal death have not been fully elucidated. In this study, we confirmed that ECH p...

2015
David Araujo-Vilar Sofía Sánchez-Iglesias Cristina Guillín-Amarelle Ana Castro Mary Lage Marcos Pazos José Manuel Rial Javier Blasco Encarna Guillén-Navarro Rosario Domingo-Jiménez María Ruiz del Campo Blanca González-Méndez Felipe F. Casanueva

Lipodystrophies are a group of diseases mainly characterized by a loss of adipose tissue and frequently associated with insulin resistance, hypertriglyceridemia, and hepatic steatosis. In uncommon lipodystrophies, these complications frequently are difficult to control with conventional therapeutic approaches. This retrospective study addressed the effectiveness of recombinant methionyl leptin ...

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