Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

Autor: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy., Khan K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Beneteau C; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Fox RG; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA., von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Khan A; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Joubert M; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU Nantes, Department of Anatomical Pathology, Nantes, France., Fievet L; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC., Musquer M; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU Nantes, Department of Anatomical Pathology, Nantes, France., Le Vaillant C; CHU Nantes, Department of Obstetrics and Gynecology, Nantes, France., Holsclaw JK; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC., Lim D; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners, Birmingham, United Kingdom; Department of Medicine, University of Birmingham, Birmingham, United Kingdom., Berking AC; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Accogli A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Giacomini T; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, IRCCS G. Gaslini Institute, Genoa, Italy., Nobili L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, IRCCS G. Gaslini Institute, Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy., Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Cogné B; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Salick MR; Insitro, South San Francisco, CA., Kaykas A; Insitro, South San Francisco, CA., Eggan K; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA., Capra V; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy., Bézieau S; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL. Electronic address: eridavis@luriechildrens.org., Wells MF; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA; Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA. Electronic address: mfwells@mednet.ucla.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Apr; Vol. 26 (4), pp. 101057. Date of Electronic Publication: 2023 Dec 27.

Annealing of Complementary DNA Sequences During Double-Strand Break Repair in Drosophila Is Mediated by the Ortholog of SMARCAL1.

Autor: Holsclaw JK; Curriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, North Carolina 27599., Sekelsky J; Curriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, North Carolina 27599 sekelsky@unc.edu.; Department of Biology, University of North Carolina, Chapel Hill, North Carolina 27599.; Integrative Program in Biological and Genome Sciences, University of North Carolina, Chapel Hill, North Carolina 27599.

Publikováno v: Genetics [Genetics] 2017 May; Vol. 206 (1), pp. 467-480. Date of Electronic Publication: 2017 Mar 03.

The development of a monoclonal antibody recognizing the Drosophila melanogaster phosphorylated histone H2A variant (γ-H2AV).

Autor: Lake CM; Stowers Institute for Medical Research, Kansas City, Missouri 64110., Holsclaw JK, Bellendir SP, Sekelsky J, Hawley RS

Publikováno v: G3 (Bethesda, Md.) [G3 (Bethesda)] 2013 Sep 04; Vol. 3 (9), pp. 1539-43. Date of Electronic Publication: 2013 Sep 04.

Improving one-step scarless genome editing in Drosophila melanogaster by combining ovo^D co-CRISPR selection with sgRNA target site masking.

Autor: Götze, Katharina J¹, Mrestani, Achmed^1,2,3, Beckmann, Paula¹, Krohn, Knut⁴, Duc, Diana Le⁵, Velluva, Akhil^5,6, Böhme, Mathias A¹, Heckmann, Manfred², Jamra, Rami Abou⁵, Lemke, Johannes R⁵, Bläker, Hendrik⁷, Scholz, Nicole¹, Ljaschenko, Dmitrij¹ Dmitrij.Ljaschenko@medizin.uni-leipzig.de, Langenhan, Tobias¹ Dmitrij.Ljaschenko@medizin.uni-leipzig.de

Publikováno v: Biology Methods & Protocols. 2022, Vol. 7 Issue 1, p1-12. 12p.

Cooperation between oncogenic Ras and wild-type p53 stimulates STAT non-cell autonomously to promote tumor radioresistance.

Autor: Dong, Yong-Li^1,2, Vadla, Gangadhara P.³, Lu, Jin-Yu (Jim)^1,4, Ahmad, Vakil³, Klein, Thomas J.^1,5, Liu, Lu-Fang¹, Glazer, Peter M.⁶, Xu, Tian^1,7 tian.xu@yale.edu, Chabu, Chiswili-Yves³ chabuc@missouri.edu

Publikováno v: Communications Biology. 3/19/2021, Vol. 4 Issue 1, p1-13. 13p.