Results 271 to 280 of about 390,058 (293)

Pancreatic neuroendocrine tumors and <i>MUTYH</i> pathogenic variants: a multinational study. [PDF]

Ther Adv Med Oncol
Riechelmann RP, Torrezan GT, Bergsland E, Raj N, Strosberg J, Moon F, Felismino TC, Knappskog S, Trevizani E, Cingarlini S, Sorbye H.   +10 more
europepmc   +1 more source

Double Pathogenic or Likely Pathogenic Variants in Cancer Predisposition Genes in Hungarian Cancer Patients. [PDF]

Int J Mol Sci
Pócza T, Papp J, Bozsik A, Grolmusz VK, Nagy P, Patócs A, Butz H.   +6 more
europepmc   +1 more source

Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry. [PDF]

Nat Commun
Gheybi K, Soh PXY, Jiang J, Mbeki TMN, Louw M, Burns D, Mundra P, Kiriy D, Hasan MM, Jaratlerdsiri W, Lebelo MT, Campbell RA, Radzuma MB, Nenzhelele M, Obida M, Obida M, Ombuki WM, Oyaro MO, Patrick SM, Loda M, Wedge DC, Bristow RG, Brewer DS, Cooper CS, Reimand J, Cancel-Tassin G, Cussenot O, Hovens CM, Cocoran NM, Stricker PD, Schlomm T, Prins GS, Sørensen KD, Pan Prostate Cancer Group, HEROIC PCaPH Africa1K, Weischenfeldt J, Mutambirwa SBA, Ngugi PM, Thomas DM, Kote-Jarai Z, Eeles RA, Bornman MSR, Hayes VM.   +42 more
europepmc   +1 more source

Functional spectrum of USP7 pathogenic variants in Hao-Fountain syndrome: Insights into the enzyme's activity, stability, and allosteric modulation. [PDF]

Proc Natl Acad Sci U S A
Korchak EJ, Sharafi M, Jaen Maisonet I, Salazar-Chaparro A, Semenova IV, Khan H, O'Neil AL, Caro P, Schaaf CP, Buhrlage SJ, Bezsonova I.   +10 more
europepmc   +1 more source

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort

Pagnamenta AT, Fasham J, Beaumont RN, Baker D, Hall T, Baple EL, Balasubramanian M, Jackson L, Wright CF.   +8 more
europepmc   +1 more source

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Predicting pathogenic protein variants

Science, 2023
Machine-learning algorithm uses structure prediction to spot disease-causing ...
Joseph A, Marsh, Sarah A, Teichmann
openaire   +2 more sources

Germline pathogenic SMARCA4 variants in neuroblastoma

Journal of Medical Genetics, 2023
Heterozygous germline pathogenic variants (GPVs) in SMARCA4, the gene encoding the ATP-dependent chromatin remodelling protein SMARCA4 (previously known as BRG1), predispose to several rare tumour types, including small cell carcinoma of the ovary, hypercalcaemic type, atypical teratoid and malignant rhabdoid tumour, and uterine sarcoma.
Leora Witkowski, Kim E. Nichols, Marjolijn Jongmans, Nienke van Engelen, Ronald R de Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E. Plon, William D Foulkes   +14 more
openaire   +4 more sources

Pathogenic variants in non‐protein‐coding sequences

Clinical Genetics, 2013
There are approximately 3000 human protein‐coding genes that have been linked with (near) monogenic disorders. This knowledge reflects the past and present focus on protein‐coding genes as the main reservoir of pathogenic variation in the human genome.
Makrythanasis P1, Antonarakis SE.
openaire   +2 more sources

Pathogens select for genomic variants

Science, 2017
Malarial Genomics Large-scale deletions and duplications of genes, referred to as structural variants (SVs), are common within the human genome and have been linked to disease. Examining a genomic region that appears to confer a selective benefit, Leffler et al.
openaire   +2 more sources

Germline pathogenic variants in prostate cancer

Pathology - Research and Practice
While most prostate cancer is sporadic, evidence suggests that a significant minority of cases have a hereditary component, and germline variants may play a role in this heritability. In this study, we investigated germline pathogenic variants in prostate cancer patients.
Yousif M, Shakroo, Charles A, Seabury, Kenneth A, Iczkowski, Kinloch, Nelson, Junqi, Qian, Dharam M, Ramnani   +5 more
openaire   +2 more sources