Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Autor: Harris HK; Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Baylor College of Medicine and Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, TX, USA., Nakayama T; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Lai J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Neuroscience, Harvard University, Boston, MA, USA., Zhao B; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Argyrou N; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Gubbels CS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Soucy A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Genetti CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Suslovitch V; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Rodan LH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Lesca G; Department of Medical Genetics, Lyon University Hospital, Bron, France., Gripp KW; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Asadollahi R; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Applegate CD; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Turnpenny PD; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Simon MEH; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Volker-Touw CML; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Gassen KLIV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Binsbergen EV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Vries BBA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Immken LL; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA., Buchanan C; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA., Willing M; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Toler TL; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Fassi E; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Baker L; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Vansenne F; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Wang X; Ciphergene, Beijing, China., Ambrus JL Jr; Division of Allergy, Immunology, and Rheumatology, SUNY at Buffalo School of Medicine, Buffalo, NY, USA., Fannemel M; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Agolini E; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Boonsawat P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Kibaek M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Labalme A; Department of Medical Genetics, Lyon University Hospital, Bron, France., Poisson A; Department of Medical Genetics, Lyon University Hospital, Bron, France., Payne KK; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA., Walsh LE; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA.; Department of Medical and Molecular Genetics, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gray C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Murrell J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bupp CP; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Pascolini G; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy., Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy., Broly M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Rasool IG; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Zahoor MY; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan., Kraus C; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Reis A; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Iqbal M; Department of Biochemistry and Biotechnology, The Islamia University of Bahawalpur, Punjab, Pakistan., Uguen K; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Audebert-Bellanger S; Department of Medical Genetics, Brest University Hospital, Brest, France., Ferec C; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Redon S; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Baker J; Department of Genomic Medicine, Children's Minnesota, Minneapolis, MN, USA., Wu Y; Shanxi Children's Hospital, Taiyuan, China., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Universita Cattolica del Sacro Cuore, Rome, Italy., Syrbe S; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Brosse I; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Dobyns WB; Departments of Pediatrics and Genetics, University of Minnesota, Minneapolis, MN, USA., Cohen LL; Division of Medical Genetics, Weill Cornell Medical College, New York, NY, USA., Blomhoff A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Mignot C; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Keren B; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Courtin T; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Beggs AH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Program in Neuroscience, Harvard University, Boston, MA, USA. timothy.yu@childrens.harvard.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun; Vol. 23 (6), pp. 1028-1040. Date of Electronic Publication: 2021 Mar 03.

Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.

Autor: Cheema HA; Dr. Huma Arshad Cheema, MBBS, MCPS, DPGN. Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital & The Institute for Child Health, Lahore, Pakistan., Rasool IG; Iqra Ghulam Rasool, M.Phil. Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan., Anjum MN; Dr. Muhammad Nadeem Anjum, MBBS, FCPS. Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital & The Institute for Child Health, Lahore, Pakistan., Zahoor MY; Dr. Muhammad Yasir Zahoor, PhD. Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.

Publikováno v: Pakistan journal of medical sciences [Pak J Med Sci] 2020 Mar-Apr; Vol. 36 (3), pp. 479-484.

B 型尼曼-皮克病及其肝脏受累的异质性表现1例报告.

Autor: 阳 乔^1,2, 沈 轶³, 史 悦⁴, 王 进⁴, 吕芳芳¹ lvfangfang@zju.edu.cn

Publikováno v: Journal of Clinical Hepatology / Linchuang Gandanbing Zazhi. Feb2024, Vol. 40 Issue 2, p356-360. 5p.

SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency.

Autor: Wang, Ruisong^1,2 (AUTHOR), Qin, Ziyi¹ (AUTHOR), Huang, Long¹ (AUTHOR), Luo, Huiling¹ (AUTHOR), Peng, Han¹ (AUTHOR), Zhou, Xinyu¹ (AUTHOR), Zhao, Zhixiang¹ (AUTHOR), Liu, Mingyao^1,3 (AUTHOR), Yang, Pinhong^1,3 (AUTHOR) pinhong_yang@163.com, Shi, Tieliu^1,3 (AUTHOR) tieliushi@yahoo.com

Publikováno v: Hereditas. 3/13/2023, Vol. 160 Issue 1, p1-17. 17p.

SMPD1 gene variants in patients with β-Thalassemia major.

Autor: Dursun, Fadime Ersoy, Özen, Filiz

Publikováno v: Molecular Biology Reports; Apr2023, Vol. 50 Issue 4, p3355-3363, 9p