Associated Papers
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Mayer de Lima LB et al.
Clinical Genetics, 2026
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
P17 Distinguishing familial generalized multiple glomangiomas from blue rubber bleb naevus syndrome: a case discussion.
Datsenko A et al.
The British Journal of Dermatology, 2025
P19 A rare case of PHOAR2-enteropathy syndrome (PHOAR2E; previously known as pachydermoperiostosis) with a causal variant in the SLCO2A1 gene.
Grechin C et al.
The British Journal of Dermatology, 2025
P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.
Poudel P et al.
The British Journal of Dermatology, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.
Le Collen L et al.
European Journal of Endocrinology, 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Restrictive dermopathy due to ZMPSTE24 deficiency.
Ververi A et al.
Clinical Dysmorphology, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
Wang L et al.
Molecular Genetics & Genomic Medicine, 2021
Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.
Scott JB et al.
Pediatric Dermatology, 2021
Preclinical Advances of Therapies for Laminopathies.
Benarroch L et al.
Journal of Clinical Medicine, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile.
Alarcón PI et al.
American Journal of Medical Genetics. Part A, 2019
Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation.
Diociaiuti A et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 2018
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Cassini TA et al.
American Journal of Medical Genetics. Part A, 2018
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.
Cenni V et al.
Ageing Research Reviews, 2018
Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.
Janin A et al.
Orphanet Journal of Rare Diseases, 2017
Mutational and expressional alterations of ZMPSTE24, DNA damage response-related gene, in gastric and colorectal cancers.
Lee JH et al.
Pathology, Research and Practice, 2016
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Haye D et al.
American Journal of Medical Genetics. Part A, 2016
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Triggs-Raine B et al.
Molecular Genetics & Genomic Medicine, 2016
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Galant D et al.
Cells, 2016
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.
Schrodi SJ et al.
Human Genetics, 2015
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Navarro CL et al.
European Journal of Human Genetics : Ejhg, 2014
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Chong JX et al.
American Journal of Human Genetics, 2012
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.
Loucks C et al.
American Journal of Medical Genetics. Part A, 2012
Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
Ahmad Z et al.
Clinical Genetics, 2012
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.
De Vos WH et al.
Human Molecular Genetics, 2011
Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.
Miner JH
American Journal of Medical Genetics. Part A, 2010
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.
Smigiel R et al.
American Journal of Medical Genetics. Part A, 2010
Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.
Li C
American Journal of Medical Genetics. Part A, 2010
Nuclear protein import is reduced in cells expressing nuclear envelopathy-causing lamin A mutants.
Busch A et al.
Experimental Cell Research, 2009
Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.
Morais P et al.
European Journal of Pediatrics, 2009
A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.
Chen M et al.
American Journal of Medical Genetics. Part A, 2009
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
Verstraeten VL et al.
Journal of Cellular and Molecular Medicine, 2009
A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.
Sander CS et al.
The British Journal of Dermatology, 2008
Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions.
Ramírez CL et al.
Cellular and Molecular Life Sciences : Cmls, 2007
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
Verstraeten VL et al.
Human Molecular Genetics, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Altered splicing in prelamin A-associated premature aging phenotypes.
De Sandre-Giovannoli A et al.
Progress in Molecular and Subcellular Biology, 2006
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.
Moulson CL et al.
The Journal of Investigative Dermatology, 2005
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Navarro CL et al.
Human Molecular Genetics, 2005