A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

Autor: Marafi D; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110, Kuwait; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Kozar N; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Bradley S; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK., Yokochi K; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi 441-8570, Japan; Department of Pediatrics, Seirei Mikatahara General Hospital, Shizuoka 433-8558, Japan., Al Mutairi F; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, P.O. Box 22490, Riyadh 11426, Kingdom of Saudi Arabia; King Abdullah International Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia., Saadi NW; College of Medicine, University of Baghdad, Baghdad 10001, Iraq; Children Welfare Teaching Hospital, Medical City Complex, Baghdad 10001, Iraq., Whalen S; UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, APHP, Sorbonne Université, Hôpital Trousseau, 75005 Paris, France., Brunet T; Institute of Human Genetics, Faculty of Medicine, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Choukair D; Division of Pediatric Endocrinology, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France., Nava C; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan., Arai H; Department of Pediatric Neurology, Bobath Memorial Hospital, Osaka 536-0023, Japan., Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan., Faqeih EA; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia., AlAsmari AM; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia., Saleh MM; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia., Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Schmitz CT; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa 236-0004, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan., Wagstaff LJ; Centre for Regenerative Medicine, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh, UK., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu., Meijer D; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK. Electronic address: dies.meijer@ed.ac.uk., Wagner M; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, Munich, Germany.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Sep 01; Vol. 109 (9), pp. 1713-1723. Date of Electronic Publication: 2022 Aug 09.

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.

Autor: Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Morales-Rosado JA; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Macklin-Mantia SK; Department of Medical Genetics, Mayo Clinic, Jacksonville, Florida, USA., Schmitz CT; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Oskarsson B; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Wierenga KJ; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jul; Vol. 10 (7), pp. e1966. Date of Electronic Publication: 2022 May 15.

A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.

Autor: Schultz-Rogers L; Mayo Clinic., Lach FP; The Rockefeller University., Rickman KA; The Rockefeller University., Ferrer A; Mayo Clinic., Mangaonkar AA; Mayo Clinic., Schwab TL; Mayo Clinic., Schmitz CT; Mayo Clinic., Clark KJ; Mayo Clinic., Dsouza NR; Medical College of Wisconsin., Zimmermann MT; Medical College of Wisconsin., Litzow M; Mayo Clinic., Jacobi N; Hennepin County Medical Center., Klee EW; Mayo Clinic., Smogorzewska A; The Rockefeller University., Patnaik MM; Mayo Clinic.

Publikováno v: Haematologica [Haematologica] 2021 Apr 01; Vol. 106 (4), pp. 1188-1192. Date of Electronic Publication: 2021 Apr 01.

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.

Autor: Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA., Morales-Rosado JA; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA., Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA., Schmitz CT; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA., Kruisselbrink T; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA., Lanpher B; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2020 Aug 25; Vol. 6 (4). Date of Electronic Publication: 2020 Aug 25 (Print Publication: 2020).

Cortical phosphorylated α-Synuclein levels correlate with brain wave spectra in Parkinson's disease.

Autor: Caviness JN; Department of Neurology, Mayo Clinic, Scottsdale, Arizona, USA., Lue LF; Laboratories of Neuroregeneration and Neuroinflammation, Banner-Sun Health Research Institute, Sun City, Arizona, USA., Hentz JG; Department of Biostatistics, Mayo Clinic, Scottsdale, Arizona, USA., Schmitz CT; Laboratories of Neuroregeneration and Neuroinflammation, Banner-Sun Health Research Institute, Sun City, Arizona, USA., Adler CH; Department of Neurology, Mayo Clinic, Scottsdale, Arizona, USA., Shill HA; Cleo Roberts Center, Banner-Sun Health Research Institute, Sun City, Arizona, USA., Sabbagh MN; Cleo Roberts Center, Banner-Sun Health Research Institute, Sun City, Arizona, USA., Beach TG; Department of Neuropathology, Banner-Sun Health Research Institute, Sun City, Arizona, USA., Walker DG; Laboratories of Neuroregeneration and Neuroinflammation, Banner-Sun Health Research Institute, Sun City, Arizona, USA.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2016 Jul; Vol. 31 (7), pp. 1012-9. Date of Electronic Publication: 2016 Apr 08.