Rare but Relevant Kidney Disorders

Autor: D Bockenhauer, S Feather, HC Stanescu, S Bandulik, AA Zdebik, M Reichold, J Tobin, E Lieberer, C Sterner, G Landoure, R Arora, T Sirimanna, D Thompson, JH Cross, W van't Hoff, O Al Masri, K Tullus, S Yeung, Y Anikster, E Klootwijk, M Hubank, MJ Dillon, D Heitzmann, M Arcos-Burgos, MA Knepper, A Dobbie, WA Gahl, R Warth, E Sheridan, R Kleta

Publikováno v: Clinical Journal of the American Society of Nephrology. 4:1701-1704

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8872c6eda836c7e6713f962c667343b0
https://doi.org/10.2215/01.cjn.0000927052.57897.21

Hutchinson-Gilford progeria syndrome: Oral and craniofacial phenotypes

Autor: DL Domingo, MI Trujillo, SE Council, MA Merideth, LB Gordon, T Wu, WJ Introne, WA Gahl, TC Hart

Objective: Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene (LMNA) produces abnormal lamin A, resulting in compromised nucl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6034f4aba105cfbde05f0f9fffe00df
https://europepmc.org/articles/PMC2664390/

Central nervous system involvement in Erdheim-Chester disease: a magnetic resonance imaging study.

Autor: Zahergivar A; Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA; Department of Internal Medicine, George Washington University, Washington, DC, USA., Firouzabadi FD; Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Homayounieh F; Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Golagha M; Urology Oncology Branch, National Cancer Institutes, National Institutes of Health, Bethesda, MD, USA., Huda F; Department of Radiology, University of Louisville School of Medicine, KY, USA., Biassou N; Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Shah R; Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Nikpanah M; Department of Radiology, University of Alabama at Birmingham, Birmingham, AL, USA., Mirmomen M; Department of Radiology, UC San Diego School of Medicine, San Diego, CA, USA., Farhadi F; Geisel School of Medicine at Dartmouth, Hanover, NH, USA., Dave RH; Viral Immunology and Intravital Imaging Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Shekhar S; Clinical Research Branch, National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Research Triangle Park, NC, USA., Gahl WA; National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, NIH, Bethesda, MD, USA., Estrada-Veras JI; National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, NIH, Bethesda, MD, USA., Malayeri AA; Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA. Electronic address: ashkan.malayeri@nih.gov., O'Brien K; National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, NIH, Bethesda, MD, USA. Electronic address: obrienke@mail.nih.gov.

Publikováno v: Clinical imaging [Clin Imaging] 2024 Nov; Vol. 115, pp. 110281. Date of Electronic Publication: 2024 Sep 04.

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.

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.