Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Autor: Diaz Perez KK; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Chung S; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Head ST; Department of Biostatistics and Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Hecht JT; Department of Pediatrics, McGovern Medical, School and School of Dentistry, UT Health at Houston, Houston, Texas, USA., Wehby GL; Department of Health Management and Policy, University of Iowa, Iowa City, Iowa, USA., Weinberg SM; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh School of Dental Medicine, Pittsburgh, Pennsylvania, USA., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh School of Dental Medicine, Pittsburgh, Pennsylvania, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Oct; Vol. 191 (10), pp. 2558-2570. Date of Electronic Publication: 2023 Jun 23.

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.

Autor: Bishop MR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Diaz Perez KK; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Sun M; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA., Ho S; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Chopra P; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Mukhopadhyay N; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA., Hetmanski JB; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Taub MA; Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Moreno-Uribe LM; Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA., Valencia-Ramirez LC; Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia., Restrepo Muñeton CP; Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia., Wehby G; Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52242, USA., Hecht JT; Department of Pediatrics, McGovern Medical School and School of Dentistry, UT Health at Houston, Houston, TX 77030, USA., Deleyiannis F; UCHealth Plastic and Reconstructive Surgery, Colorado Springs, CO 80907, USA., Weinberg SM; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA., Wu-Chou YH; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Chen PK; Craniofacial Centre, Taipei Medical University Hospital and Taipei Medical University, Taipei, Taiwan., Brand H; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Ruczinski I; Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Murray JC; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Beaty TH; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Feingold E; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA., Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Marazita ML; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Jul 02; Vol. 107 (1), pp. 124-136. Date of Electronic Publication: 2020 Jun 22.

Research progress of proteomics in congenital craniofacial anomalies.

Autor: Shujie Hou, Xuqin Liang, Yuhua Jiao, Boxi Yan, Kangying Liu, Hongmei Lin, Yi Ding, Huimei Huang, Jieni Zhang, Huaxiang Zhao

Publikováno v: Journal of Clinical Pediatric Dentistry; Nov2024, Vol. 48 Issue 6, p1-11, 11p

Single‐cell RNA sequencing in oral science: Current awareness and perspectives.

Autor: Wu, Jie^1,2,3 (AUTHOR), Ding, Yumei^1,3,4 (AUTHOR), Wang, Jinyu^1,3,4 (AUTHOR), Lyu, Fengyuan^3,4,5 (AUTHOR), Tang, Qingming^1,3,4 (AUTHOR), Song, Jiangyuan^1,3,4 (AUTHOR), Luo, Zhiqiang⁶ (AUTHOR), Wan, Qian^7,8 (AUTHOR), Lan, Xiaoli^9,10 (AUTHOR), Xu, Zhi^1,3,4 (AUTHOR) xuz@hust.edu.cn, Chen, Lili^1,3,4 (AUTHOR) chenlili1030@hust.edu.cn

Publikováno v: Cell Proliferation. Oct2022, Vol. 55 Issue 10, p1-20. 20p.

Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models.

Autor: Ishorst N; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany. nina.ishorst@uni-bonn.de.; Institute of Anatomy, Division of Neuroanatomy, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany. nina.ishorst@uni-bonn.de., Hölzel S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Greve C; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; LOEWE Centre for Translational Biodiversity Genomics, Frankfurt am Main, Germany., Yilmaz Ö; Institute of Anatomy, Division of Neuroanatomy, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Lindenberg T; Institute of Anatomy, Division of Neuroanatomy, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Lambertz J; Institute of Anatomy, Division of Neuroanatomy, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Drichel D; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Zametica B; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Mingardo E; Institute of Anatomy and Cell Biology, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Faculty of Life Science, Nutritional Biochemistry, University of Bayreuth, Bayreuth, Germany., Kalanithy JC; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Institute of Anatomy, Division of Neuroanatomy, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Channab K; Institute of Anatomy and Cell Biology, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Kibris D; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Institute of Anatomy, Division of Neuroanatomy, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Henne S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Degenhardt F; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Duisburg, Germany., Siewert A; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Dixon M; Faculty of Biology, Medicine & Health, University of Manchester, Manchester, M13 9PL, UK., Kruse T; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Orthodontics, Cologne, Germany., Ongkosuwito E; Department of Dentistry, Section of Orthodontics and Craniofacial Biology, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nowak S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Hagelueken G; Institute of Structural Biology, University of Bonn, Bonn, Germany., Geyer M; Institute of Structural Biology, University of Bonn, Bonn, Germany., Carels C; Department of Human Genetics, KU Leuven, Leuven, Belgium., van Rooij IALM; IQ Health Science Department, Radboud University Medical Center, Nijmegen, The Netherlands., Ludwig KU; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Odermatt B; Institute of Anatomy, Division of Neuroanatomy, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany. b.odermatt@uni-bonn.de.; Institute of Anatomy and Cell Biology, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany. b.odermatt@uni-bonn.de., Mangold E; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany. e.mangold@uni-bonn.de.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec 19. Date of Electronic Publication: 2024 Dec 19.