Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
JP Lerner-Ellis, JC Tirone, PD Pawelek, C Doré… - Nature …, 2006 - nature.com
Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common
inborn error of vitamin B 12 (cobalamin) metabolism, with about 250 known cases. Affected …
inborn error of vitamin B 12 (cobalamin) metabolism, with about 250 known cases. Affected …
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
…, D Bakry, GS Charames, H Druker, J Lerner-Ellis… - Nature …, 2015 - nature.com
DNA replication−associated mutations are repaired by two components: polymerase
proofreading and mismatch repair. The mutation consequences of disruption to both repair …
proofreading and mismatch repair. The mutation consequences of disruption to both repair …
Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer
…, A Borgida, L Briollais, GM Petersen, J Lerner-Ellis… - Gastroenterology, 2015 - Elsevier
Background & Aims We investigated the prevalence of germline mutations in APC, ATM,
BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, STK11, and TP53 in …
BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, STK11, and TP53 in …
[HTML][HTML] Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium
…, R Dvir, I Qaddoumi, S Gallinger, J Lerner-Ellis… - European journal of …, 2014 - Elsevier
Background Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer
predisposition syndrome for which data regarding clinical manifestations, molecular screening …
predisposition syndrome for which data regarding clinical manifestations, molecular screening …
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype–phenotype correlations
JP Lerner‐Ellis, N Anastasio, J Liu, D Coelho… - Human …, 2009 - Wiley Online Library
Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular
vitamin B 12 (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. …
vitamin B 12 (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. …
[HTML][HTML] Gene Identification for the cblD Defect of Vitamin B12 Metabolism
…, T Suormala, M Stucki, JP Lerner-Ellis… - … England Journal of …, 2008 - Mass Medical Soc
Background Vitamin B 12 (cobalamin) is an essential cofactor in several metabolic pathways.
Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in …
Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in …
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria
…, H Kadir, M Narang, JP Lerner-Ellis… - Human molecular …, 2002 - academic.oup.com
The methylmalonic acidurias are metabolic disorders resulting from deficient methylmalonyl-CoA
mutase activity, a vitamin B 12 -dependent enzyme. We have cloned the gene for the …
mutase activity, a vitamin B 12 -dependent enzyme. We have cloned the gene for the …
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype–genotype correlations and ethnic-specific observations
CF Morel, JP Lerner-Ellis, DS Rosenblatt - Molecular genetics and …, 2006 - Elsevier
Methylmalonic aciduria and homocystinuria, cblC type (MIM 277400), is the most frequent
inborn error of vitamin B 12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to …
inborn error of vitamin B 12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to …
Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone …
…, LR Eiriksson, AM Oza, S Gallinger, J Lerner‐Ellis… - Cancer, 2014 - Wiley Online Library
BACKGROUND Immunohistochemistry (IHC) for mismatch repair protein expression,
microsatellite instability (MSI) testing, tumor morphology, and family history were compared to …
microsatellite instability (MSI) testing, tumor morphology, and family history were compared to …
[HTML][HTML] Molecular-based classification algorithm for endometrial carcinoma categorizes ovarian endometrioid carcinoma into prognostically significant groups
C Parra-Herran, J Lerner-Ellis, B Xu, S Khalouei… - Modern Pathology, 2017 - Elsevier
The Cancer Genome Atlas classification divides endometrial carcinoma in biologically
distinct groups, and testing for p53, mismatch repair proteins (MMR), and polymerase ɛ (POLE) …
distinct groups, and testing for p53, mismatch repair proteins (MMR), and polymerase ɛ (POLE) …
