Results 201 to 210 of about 239,120 (310)

Targeting the Menin–KMT2A interaction in leukemia: Lessons learned and future directions

International Journal of Cancer, EarlyView.
Abstract Chromosomal rearrangements involving the Mixed Lineage Leukemia gene (MLL1, KMT2A) are defining a genetically distinct subset in about 10% of human acute leukemias. Translocations involving the KMT2A‐locus at chromosome 11q23 are resulting in the formation of a chimeric oncogene, where the N‐terminal part of KMT2A is fused to a variety of ...
Florian Perner, Jayant Y. Gadrey, Scott A. Armstrong, Michael W. M. Kühn   +3 more
wiley   +1 more source

Missense variants pathogenicity annotation from homologous proteins. [PDF]

Bioinformatics
Ruiz-Alías G, Soldevila S, Altafaj X, Cordomí A, Olivella M.   +4 more
europepmc   +1 more source

Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?

International Journal of Cancer, EarlyView.
What's New? Currently, no published data on homologous recombination deficiency (HRD) testing in the setting of molecular tumor boards exist. This study in a cohort of 237 patients encompassing 24 different tumor entities assessed by a molecular tumor board shows that inactivating alterations of BRCA1/2 are not always associated with an elevated ...
Christoph Schubart, Lars Tögel, Maria Giulia Carta, Philip Hetzner, Lina Helbig, Charlotte Zaglas, Maria Ziegler, Robert Stöhr, Annett Hölsken, Juliane Hoyer, Fulvia Ferrazzi, Clemens Neufert, Sebastian Lettmaier, Marianne Pavel, Henriette Golcher, Sarina K. Mueller, Florian Fuchs, Carla E. Schulmeyer, Matthias W. Beckmann, Bernd Wullich, Abbas Agaimy, Andre Reis, Arndt Hartmann, Norbert Meidenbauer, Silvia Spoerl, Florian Haller, Evgeny A. Moskalev   +26 more
wiley   +1 more source

Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports. [PDF]

BMC Med Genomics
Wei L, Yang Y, Jiang T, Zhang C, Chen C, Huang M, Li N, Xiong H, Gao F.   +8 more
europepmc   +1 more source

Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome

International Journal of Cancer, EarlyView.
What's New? Serrated polyposis syndrome has been associated with an increased risk of colorectal cancer. HIC1 is a tumor suppressor gene commonly silenced in serrated polyps and several cancers. This study suggests HIC1 as a novel germline predisposition factor to serrated polyposis syndrome, with variants altering gene transcriptional regulation and ...
Xavier Domínguez‐Rovira, Coral Arnau‐Collell, Gemma Gonfaus‐Ortiz, Gemma Llargués‐Sistac, Jenifer Muñoz, Ainara Llopis, Yasmin Soares de Lima, Cristina Herrera‐Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz‐Gay, Miriam Cuatrecasas, Sabela Carballal, Anael López‐Novo, Guerau Fernàndez, Antoni Castells, Luis Bujanda, Gabriel Capellà, Joaquín Cubiella, Daniel Rodríguez‐Alcalde, Laura Valle, Francesc Balaguer, Clara Ruiz‐Ponte, Laia Bonjoch, Sergi Castellví‐Bel   +24 more
wiley   +1 more source

Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination. [PDF]

Orphanet J Rare Dis
Rasmussen DK, Sun YJ, Franco JA, Kumar A, Vu JT, Bassuk AG, Mahajan VB.   +6 more
europepmc   +1 more source

Homozygosity for a variant in SLC10A2 and infancy onset severe fat‐soluble vitamin deficiency due to bile acid malabsorption

JPGN Reports, EarlyView.
Abstract We present a case of a young female patient with persistent and severe fat‐soluble vitamin deficiency since infancy. Despite extensive investigations during childhood, the underlying cause remained elusive. The patient was generally asymptomatic while receiving continuous vitamin subsidy.
Christine Rungoe, Stefan Stender, Nawar Dalila, Emil D. Bartels, Christian Jakobsen   +4 more
wiley   +1 more source

A probabilistic graphical model for estimating selection coefficients of nonsynonymous variants from human population sequence data. [PDF]

Nat Commun
Zhao Y, Lan T, Zhong G, Hagen J, Pan H, Chung WK, Shen Y.   +6 more
europepmc   +1 more source

Development of functional assays for BRCA1 missense mutations [PDF]

Breast Cancer Research, 2008
Sturdy, A, Finch, D, Naseem, R, Trump, D, Evens, G, Webb, M   +5 more
openaire   +3 more sources

Genomic Profiling of Biliary Tract Cancers: Comprehensive Assessment of Anatomic and Geographic Heterogeneity, Co‐Alterations and Outcomes

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background Biliary tract cancers (BTCs) represent distinct biological and genomic entities. Anatomic and geographic heterogeneity in genomic profiling of BTC subtypes, genomic co‐alterations, and their impact on long‐term outcomes are not well defined.
Diamantis I. Tsilimigras, Hunter Stecko, Dimitrios Moris, Timothy M. Pawlik   +3 more
wiley   +1 more source