New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Restrictive Dermopathy: Report of Two Siblings

(2013) Chih-Sheng Lu et al.   Pediatrics and Neonatology

A Protease for the Ages

(2013) S. Michaelis et al.   SCIENCE

The Structural Basis of ZMPSTE24-Dependent Laminopathies

(2013) A. Quigley et al.   SCIENCE

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America

(2012) Catrina Loucks et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

(2012) Janine Reunert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity

(2012) Jemima Barrowman et al.   HUMAN MOLECULAR GENETICS

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A

(2011) Fuki M. Hisama et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

(2011) Rabah Ben Yaou et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High prevalence of laminopathies among patients with metabolic syndrome

(2011) Anne Dutour et al.   HUMAN MOLECULAR GENETICS

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

(2010) Robert Smigiel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24

(2010) Zahid Ahmad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24

(2010) Vicki J. Cunningham et al.   BONE

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity

(2010) Z Ahmad et al.   CLINICAL GENETICS

Restrictive Dermopathy in a Turkish Newborn

(2010) Gözde Yesil et al.   PEDIATRIC DERMATOLOGY

Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

(2009) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption

(2009) Chumei Li   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in theZMPSTE24gene

(2009) Ming Chen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings

(2009) Y Miyoshi et al.   CLINICAL GENETICS

Nuclear lamins: key regulators of nuclear structure and activities

(2009) Miron Prokocimer et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Restrictive dermopathy: a rare laminopathy

(2008) Marc Thill et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

A newly identified splice site mutation inZMPSTE24causes restrictive dermopathy in the Middle East

(2008) C.S. Sander et al.   BRITISH JOURNAL OF DERMATOLOGY

Restrictive dermopathy—a lethal congenital laminopathy. Case report and review of the literature

(2008) Paulo Morais et al.   EUROPEAN JOURNAL OF PEDIATRICS