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Elucidating the pathogenicity of missense variants in the nucleotide-binding and transmembrane protein domains of ABCG5 associated with sitosterolemia.

Autor: Heiberger, Helena E.¹, Stenger, Cynthia L.² clstenger@una.edu, Morris, Michele³, Truitt, Jared⁴, Terwilliger, Luke⁴

Publikováno v: Bios. 2024, Vol. 95 Issue 4, p251-258. 8p.

Splicing Dysregulation of Non-Canonical GC-5′ Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2.

Autor: Llinares-Burguet, Inés¹ (AUTHOR) ines.llinares@estudiantes.uva.es, Sanoguera-Miralles, Lara¹ (AUTHOR), Valenzuela-Palomo, Alberto¹ (AUTHOR), García-Álvarez, Alicia¹ (AUTHOR), Bueno-Martínez, Elena¹ (AUTHOR), Velasco-Sampedro, Eladio A.¹ (AUTHOR) eavelsam@uva.es

Publikováno v: Cancers. Nov2024, Vol. 16 Issue 21, p3562. 14p.

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma.

Autor: Mirabello L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Zhu B; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Koster R; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Karlins E; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, Maryland., Dean M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, Maryland., Yeager M; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, Maryland., Gianferante M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Spector LG; Department of Pediatrics, University of Minnesota, Minneapolis., Morton LM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Karyadi D; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Robison LL; Department of Epidemiology and Cancer Control, St Jude Children's Research Hospital, Memphis, Tennessee., Armstrong GT; Department of Epidemiology and Cancer Control, St Jude Children's Research Hospital, Memphis, Tennessee., Bhatia S; Institute for Cancer Outcomes and Survivorship, University of Alabama at Birmingham, Birmingham., Song L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Pankratz N; Department of Pediatrics, University of Minnesota, Minneapolis., Pinheiro M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Gastier-Foster JM; Department of Pathology and Pediatrics, Nationwide Children's Hospital, The Ohio State University, Columbus., Gorlick R; Department of Pediatrics, University of Texas MD Anderson Cancer Center, Houston., de Toledo SRC; Laboratorio de Genetica, Instituto de Oncologia Pediatrica, Grupo de Apoio ao Adolescente e a Crianca com Cancer/Universidade Federal de Sao Paulo, Sao Paulo, Brazil., Petrilli AS; Laboratorio de Genetica, Instituto de Oncologia Pediatrica, Grupo de Apoio ao Adolescente e a Crianca com Cancer/Universidade Federal de Sao Paulo, Sao Paulo, Brazil., Patino-Garcia A; Solid Tumor Division, Department of Pediatrics, University Clinic of Navarra and Center for Applied Medical Research, Navarra Institute for Health Research, Pamplona, Spain.; Center for Applied Medical Research, University of Navarra, Instituto de Investigacion Sanitaria de Navarra, and Centro de Investigacion Biomedica en Red Cancer, Pamplona, Spain., Lecanda F; Solid Tumor Division, Department of Pediatrics, University Clinic of Navarra and Center for Applied Medical Research, Navarra Institute for Health Research, Pamplona, Spain.; Center for Applied Medical Research, University of Navarra, Instituto de Investigacion Sanitaria de Navarra, and Centro de Investigacion Biomedica en Red Cancer, Pamplona, Spain., Gutierrez-Jimeno M; Solid Tumor Division, Department of Pediatrics, University Clinic of Navarra and Center for Applied Medical Research, Navarra Institute for Health Research, Pamplona, Spain., Serra M; Laboratory of Experimental Oncology, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Ortopedico Rizzoli, Bologna, Italy., Hattinger C; Laboratory of Experimental Oncology, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Ortopedico Rizzoli, Bologna, Italy., Picci P; Laboratory of Experimental Oncology, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Ortopedico Rizzoli, Bologna, Italy., Scotlandi K; Laboratory of Experimental Oncology, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Ortopedico Rizzoli, Bologna, Italy., Flanagan AM; Research Department of Pathology, UCL Cancer Institute, London, United Kingdom.; Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, United Kingdom., Tirabosco R; Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, United Kingdom., Amary MF; Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, United Kingdom., Kurucu N; Department of Pediatric Oncology, A.Y. Ankara Oncology Training and Research Hospital, Yenimahalle, Ankara, Turkey., Ilhan IE; Department of Pediatric Oncology, A.Y. Ankara Oncology Training and Research Hospital, Yenimahalle, Ankara, Turkey., Ballinger ML; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; St. Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia., Thomas DM; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; St. Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia., Barkauskas DA; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, Los Angeles., Mejia-Baltodano G; Hospital Infantil Manuel De Jesus Rivera, Managua, Nicaragua., Valverde P; Unidad Nacional de Oncología Pediatrica, Guatemala City, Guatemala., Hicks BD; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, Maryland., Zhu B; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, Maryland., Wang M; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, Maryland., Hutchinson AA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, Maryland., Tucker M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Sampson J; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Landi MT; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Freedman ND; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Gapstur S; Epidemiology Research Program, American Cancer Society, Atlanta, Georgia., Carter B; Epidemiology Research Program, American Cancer Society, Atlanta, Georgia., Hoover RN; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Chanock SJ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Savage SA; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

Publikováno v: JAMA oncology [JAMA Oncol] 2020 May 01; Vol. 6 (5), pp. 724-734.

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.

Autor: Sambuughin, Nyamkhishig^1,2 (AUTHOR) mingqiang.ren.ctr@usuhs.edu, Mungunsukh, Ognoon^2,3 (AUTHOR) peter.bedocs.ctr@usuhs.edu, Klein, Michael G.⁴ (AUTHOR) michael.klein@usuhs.edu, Ren, Mingqiang^1,2 (AUTHOR) josh.kazman.ctr@usuhs.edu, Bedocs, Peter^2,5 (AUTHOR), Kazman, Josh B.^1,2 (AUTHOR) kristen.cofer.ctr@usuhs.edu, Cofer, Kristen^1,2 (AUTHOR) liam.friel.ctr@usuhs.edu, Friel, Liam P.^1,2 (AUTHOR) beth.mcnally.ctr@usuhs.edu, McNally, Beth^1,2 (AUTHOR) kyung.kwon.ctr@usuhs.edu, Kwon, Kyung^1,2 (AUTHOR) jeff.leggit@usuhs.edu, Haigney, Mark C.⁴ (AUTHOR) mark.haigney@usuhs.edu, Leggit, Jeffrey C.^1,6 (AUTHOR) patricia.deuster@usuhs.edu, Pazgier, Marzena⁷ (AUTHOR) marzena.pazgier@usuhs.edu, Deuster, Patricia A.¹ (AUTHOR) francis.oconnor@usuhs.edu, O'Connor, Francis G.¹ (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 20, p11269. 16p.