Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

Autor: Md, Lalioti, Mirotsou M, Buresi C, Manuel Peitsch, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Se, Antonarakis

Publikováno v: American Journal of Human Genetics, Vol. 60, No 2 (1997) pp. 342-351
Europe PubMed Central

Progressive myoclonus epilepsy (EPM1) is an autosomal recessive disorder, characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The EPM1 locus was mapped to within 0.3 cM from PFKL in chromosome 21q22.3. The gene for the pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e929547c4977b73f18bf9f00b19c5d93
https://archive-ouverte.unige.ch/unige:8844

Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene

Autor: C Wong, SE Antonarakis, SC Goff, SH Orkin, BG Forget, DG Nathan, PJ Giardina, HH Jr Kazazian

Publikováno v: Blood. 73(4)

We have identified two novel RNA-splicing mutations affecting a critical nucleotide (nt) in the acceptor consensus sequences at both the IVS-1/exon 2 and IVS-2/exon 3 junctions of the human beta-globin gene. Both mutations are single nt substitutions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8f5bf9af49e6b962caddf84e713dc1
https://pubmed.ncbi.nlm.nih.gov/2920213

c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p

Autor: Er, Fearon, Se, Antonarakis, Da, Meyers, Michael Levine

Publikováno v: Europe PubMed Central

DNA sequence polymorphisms have been used to determine the linear order and recombinational distances separating the Harvey ras 1 oncogene (c-Ha-ras-1), beta-globin, insulin, and parathyroid hormone genes on the short arm of human chromosome 11. Our

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c40a1635a25e6e4b34ac970aa419a697
https://pubmed.ncbi.nlm.nih.gov/6324580

Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons

Autor: Tg, Ahn, Se, Antonarakis, Hm, Kronenberg, Igarashi T, Michael Levine

Publikováno v: Europe PubMed Central

Abnormalities in the parathyroid hormone (PTH) gene as a cause of hypoparathyroidism were evaluated by linkage analysis with DNA polymorphisms adjacent to the PTH gene in 8 families in which members were affected with familial isolated hypoparathyroi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b3b21c18392777aa3c2219326b1acd50
http://europepmc.org/abstract/med/3005800

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.

Autor: Eskin-Schwartz M; Genetics Institute, Soroka Hospital, Beer Sheva, Israel eskinma@post.bgu.ac.il ayeletze@tlvmc.gov.il.; Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Seraidy S; Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel., Paz E; Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel., Molhem M; Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Herman K; UC Davis Medical Center, MIND Institute Section of Medical Genomics, Sacramento, California, USA., Benko WS; UC Davis Medical Center, Department of Neurology, Sacramento, California, USA., Libzon S; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Ben Sira L; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Radiology, Department of Radiology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Fattal-Valevski A; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Dolgin V; The Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases at the Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Birk OS; Genetics Institute, Soroka Hospital, Beer Sheva, Israel.; Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.; The Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases at the Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Kessel A; Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel., Bross P; Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark., Weiss C; Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel., Azem A; Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel., Zerem A; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel eskinma@post.bgu.ac.il ayeletze@tlvmc.gov.il.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 Nov 05. Date of Electronic Publication: 2024 Nov 05.