Corrigendum

Autor: Osama Atawa, Dina Marek-Yagel, Jeremy Metz, Michael Schrader, Sharon Moshkovitz, Hadass Pri-Chen, Nechama Shalva, Andreea Nissenkorn, Ben Pode-Shakked, Inês G. Castro, Ninette Amariglio, Chen Hoffmann, Carlos Ferreira, Joshi Stephen, Gali Heimer, Efrat Glick Saar, William A. Gahl, Mcv Malicdan, Gideon Rechavi, Sylvie Polak-Charcon, Yair Anikster, Thierry Vilboux, Eran Eyal, Judith Kandel, Dvora Nass, Tal Yardeni, David M. Eckmann, Camila Avivi, Douglas C. Wallace, Ortal Barel, Iris Barshack, E Ganelin, Nitzan Kol, Bruria Ben-Zeev

Publikováno v: Brain. 141:e34-e34

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b3226a7175699500ebf04a7a19f4df26
https://doi.org/10.1093/brain/awy063

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.

Autor: Sharma P; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. sharmap@nih.gov., McFadden JR; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Frost FG; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Markello TC; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Grange DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA., Introne WJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

Publikováno v: Human genetics [Hum Genet] 2024 Dec; Vol. 143 (12), pp. 1445-1457. Date of Electronic Publication: 2024 Oct 25.

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.

Autor: Morimoto M; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ryu E; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan, Republic of Korea., Steger BJ; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Dixit A; Nottingham University Hospital, Nottingham, UK., Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Yoo J; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan, Republic of Korea., van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hauser N; Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA., Steinbach PJ; Bioinformatics and Computational Biosciences Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Oura K; Division of Neurology and Gerontology, Department of Internal Medicine, School of Medicine Iwate Medical University, Morioka, Japan., Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ninomiya S; Department of Clinical Genetics, Kurashiki Central Hospital, Okayama, Japan., Rosenthal EA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Robinson HK; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Guegan K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Subramony SH; Department of Neurology, University of Florida College of Medicine, Gainesville, FL, USA., Diamonstein CJ; Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA., Ping J; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA., Fenner M; Nottingham University Hospital, Nottingham, UK., Balton EV; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Strohbehn S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Bamshad MJ; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA., Gandhi M; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Dipple KM; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA., Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; University of Washington School of Public Health, Institute for Public Health Genetics, Seattle, WA, USA., Jarvik GP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Lau CC; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Holm IA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Solomon BD; Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA., Nelson SF; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Adams DR; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Kang S; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea., Gahl WA; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Toro C; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Myung K; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea; Department of Biomedical Engineering, Ulsan National Institute of Science and Technology, Ulsan, Republic of Korea., Malicdan MCV; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: maychristine.malicdan@nih.gov.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Sep 05; Vol. 111 (9), pp. 1970-1993. Date of Electronic Publication: 2024 Aug 05.

Role of lysosomal trafficking regulator in autophagic lysosome reformation in neurons: a disease perspective.

Autor: Sharma P; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Serra-Vinardell J; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Publikováno v: Neural regeneration research [Neural Regen Res] 2024 May; Vol. 19 (5), pp. 957-958.

In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis.

Autor: Padilha EC; Drug Metabolism and Pharmacokinetics Core, National Center for Advancing Translational Sciences, Rockville, MD, USA. Electronic address: elias.padilha@nih.gov., Yang M; Drug Metabolism and Pharmacokinetics Core, National Center for Advancing Translational Sciences, Rockville, MD, USA., Shah P; Drug Metabolism and Pharmacokinetics Core, National Center for Advancing Translational Sciences, Rockville, MD, USA., Wang AQ; Drug Metabolism and Pharmacokinetics Core, National Center for Advancing Translational Sciences, Rockville, MD, USA., Duan J; Inversago Pharma, Montreal, Quebec, Canada., Park JK; Laboratory of Physiologic Studies, National Institute on Alcohol Abuse and Alcoholism, National Institute of Health, Rockville, MD, USA., Zawatsky CN; Laboratory of Physiologic Studies, National Institute on Alcohol Abuse and Alcoholism, National Institute of Health, Rockville, MD, USA., Malicdan MCV; NIH Undiagnosed Diseases Program, UDP Translational Laboratory, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Kunos G; Laboratory of Physiologic Studies, National Institute on Alcohol Abuse and Alcoholism, National Institute of Health, Rockville, MD, USA., Iyer MR; Section on Medicinal Chemistry, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, 5625 Fishers Lane, Rockville, MD 20852, USA., Gaucher G; Inversago Pharma, Montreal, Quebec, Canada., Ravenelle F; Inversago Pharma, Montreal, Quebec, Canada., Cinar R; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institute of Health, Rockville, MD, USA., Xu X; Drug Metabolism and Pharmacokinetics Core, National Center for Advancing Translational Sciences, Rockville, MD, USA. Electronic address: xin.xu3@nih.gov.

Publikováno v: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie [Biomed Pharmacother] 2023 Dec; Vol. 168, pp. 115178. Date of Electronic Publication: 2023 Oct 25.