نتایج جستجو برای: progeroid appearance

تعداد نتایج: 87138  

Journal: :Indian Journal of Cardiovascular Disease in Women WINCARS 2020

2013
LIU RONG YUAN JUN R. LIU J. YUAN

The norm defined by Busemann’s inequality establishes a class of star body intersection body. This class of star body plays a key role in the solution of Busemann-Petty problem. In 2003, Giannapoulos [1] defined a norm for a new class of half-section. Based on this norm, we give a geometric generalization of Busemann-Petty problem, and get its answer as a result.

2005
STEFANO CAMPI PAOLO GRONCHI

This paper deals with inequalities for the volume of a convex body and the volume of the projection body, the L-centroid body, and their polars. Examples are the Blaschke-Santaló inequality, the Petty and Zhang projection inequalities, the Busemann-Petty inequality. Other inequalities of the same type are still at the stage of conjectures. The use of special continuous movements of convex bodie...

2017
Masaya Yamaga Minoru Takemoto Mayumi Shoji Kenichi Sakamoto Masashi Yamamoto Takahiro Ishikawa Masaya Koshizaka Yoshiro Maezawa Kazuki Kobayashi Koutaro Yokote

Werner syndrome (WS) is a rare inheritable progeroid syndrome caused by a mutation in the WRN gene. Although WS has been described as a characteristic appearance of very slender extremities with a stocky trunk, few studies have investigated the loss of muscle mass, fat mass distribution (body composition), and mobility according to age and sex. Therefore, the aim of this study was to precisely ...

2010
Gaoussou DIARRA Sébastien MARCHAND

This paper analyses mechanisms underlying firm’s compliance with environmental regulations. By using a political economy approach through a Principal-Agent model, we examine how the dynamic of environmental compliance could affect governance infrastructures by shaping the structure of institutional incentives related to stakeholder’s behaviors in regulation process. Taking the case of deforesta...

Journal: :The Journal of investigative dermatology 2015
Raymond J Monnat

The growing diversity of heritable skin diseases, a practical challenge to clinicians and dermato-nosologists alike, has nonetheless served as a rich source of insight into skin biology and disease mechanisms. I summarize below some key insights from the recent gene-driven phase of research on Werner syndrome, a heritable adult progeroid syndrome with prominent dermatologic features, constituti...

Journal: :Molecular genetics and metabolism 2014
Björn Fischer Bert Callewaert Phillipe Schröter Paul J Coucke Claire Schlack Claus-Eric Ott Manrico Morroni Wolfgang Homann Stefan Mundlos Eva Morava Anna Ficcadenti Uwe Kornak

Autosomal recessive cutis laxa (ARCL) type 2 constitutes a heterogeneous group of diseases mainly characterized by lax and wrinkled skin, skeletal anomalies, and a variable degree of intellectual disability. ALDH18A1-related ARCL is the most severe form within this disease spectrum. Here we report on the clinical and molecular findings of two affected individuals from two unrelated families. Th...

Journal: :Human molecular genetics 2003
Anil K Agarwal Jean-Pierre Fryns Richard J Auchus Abhimanyu Garg

Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy. A homozygous missense mutation, Arg527His, in the LMNA gene which encodes nuclear lamina proteins lamins A and C has been...

G.M Martin N Levy Y Shafeghati

Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness. The cardinal clinical findings were growth retardation, subcutaneous fat loss, skin dryness and wrinkling, scattered focal sclerodermoid-like changes, promin...

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