Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
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K. M. McSweeney | D. Nickerson | M. Bamshad | T. Glover | D. Lessel | P. Nürnberg | C. Kubisch | H. Thiele | C. Rusu | L. Gordon | M. Arlt | Susan E. Campbell | Abdelkrim Saadi | K. Szakszon | A. B. Ozel | J. López-Valdez | V. Plaiasu | Anna Szőllős | A. Rojas | Jun Z. Li
[1] L. Maldergem. Berardinelli-Seip congenital lipodystrophy , 2016 .
[2] D. Nickerson,et al. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. , 2018, American journal of human genetics.
[3] C. López-Otín,et al. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome , 2018, Journal of Medical Genetics.
[4] C. Prives,et al. Dysfunction of the MDM2/p53 axis is linked to premature aging. , 2017, The Journal of clinical investigation.
[5] R. Hennekam,et al. Wiedemann–Rautenstrauch syndrome: A phenotype analysis , 2017, American journal of medical genetics. Part A.
[6] Carol J. Saunders,et al. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A , 2016, American journal of medical genetics. Part A.
[7] V. Quesada,et al. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation , 2016, Journal of Medical Genetics.
[8] E. Golemis,et al. POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies , 2016, Gene.
[9] P. Robinson,et al. Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy , 2016, European Journal of Human Genetics.
[10] Amar Singh Bhukya,et al. Hutchinson-Gilford progeria syndrome , 2015, Indian dermatology online journal.
[11] J. Baldwin,et al. POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome , 2015, Human mutation.
[12] Jason J. Corneveaux,et al. A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome , 2015, PloS one.
[13] J. Shendure,et al. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. , 2015, American journal of human genetics.
[14] A. Vanderver,et al. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations , 2014, Neurology.
[15] Peter Nürnberg,et al. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features , 2014, Nature Genetics.
[16] D. Sillence,et al. Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment , 2014, American journal of medical genetics. Part A.
[17] N. Lévy,et al. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update , 2013, European Journal of Human Genetics.
[18] S. Mundlos,et al. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. , 2013, Molecular genetics and metabolism.
[19] M. Weedon,et al. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy , 2013, Nature Genetics.
[20] K. McBride,et al. Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A , 2011, American journal of medical genetics. Part A.
[21] A. Vanderver,et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. , 2011, American journal of human genetics.
[22] V. Quesada,et al. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. , 2011, American journal of human genetics.
[23] P. Robinson,et al. Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene , 2010, American journal of medical genetics. Part A.
[24] D. Lessel,et al. A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features , 2010, Molecular Syndromology.
[25] Y. Crow,et al. Atypical progeroid syndrome due to heterozygous missense LMNA mutations. , 2009, The Journal of clinical endocrinology and metabolism.
[26] Peter Nürnberg,et al. Mutations in PYCR1 cause cutis laxa with progeroid features , 2009, Nature Genetics.
[27] N. Bishop,et al. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I‐IV , 2006, Human mutation.
[28] S. Gay,et al. Progeria: A cell culture study and clinical report of familial incidence , 1977, European Journal of Pediatrics.
[29] I. Mian,et al. LMNA mutations in atypical Werner's syndrome , 2003, The Lancet.
[30] Pierre Cau,et al. Lamin A Truncation in Hutchinson-Gilford Progeria , 2003, Science.
[31] Laura Scott,et al. Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome , 2003, Nature.
[32] A. Shimamoto,et al. Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication for genomic instability in human diseases. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[33] S. Krane,et al. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. , 1997, American journal of medical genetics.
[34] P. Byers,et al. Inherited disorders of collagen gene structure and expression. , 1989, American journal of medical genetics.
[35] G. Martin. Genetic syndromes in man with potential relevance to the pathobiology of aging. , 1978, Birth defects original article series.
[36] P. Esposito,et al. Osteogenesis Imperfecta. , 1928, Proceedings of the Royal Society of Medicine.