A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.

Autor: Zhang C; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China., Qiao F; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China., Cheng Q; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China., Luo C; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China., Zhang Q; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China., Hu P; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China. njfybjyhuping@163.com., Xu Z; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China. zhengfeng_xu_nj@163.com.

Publikováno v: Biochemical genetics [Biochem Genet] 2024 Aug; Vol. 62 (4), pp. 2495-2503. Date of Electronic Publication: 2023 Nov 14.

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.

Autor: Zodanu GKE; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Hwang JH; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Mehta Z; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Sisniega C; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Barsegian A; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Kang X; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Biniwale R; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Si MS; Department of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Satou GM; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Halnon N; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Ucla Congenital Heart Defect BioCore Faculty; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Grody WW; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Van Arsdell GS; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Nelson SF; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Touma M; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA.; Children's Discovery and Innovation Institute, University of California, Los Angeles, CA 90095, USA.; Eli and Edyth Broad Stem Cell Research Center, University of California, Los Angeles, CA 90095, USA.; Cardiovascular Research Laboratories, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 May 17; Vol. 25 (10). Date of Electronic Publication: 2024 May 17.

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.

Autor: Mansoorshahi S; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Yetman AT; Children's Hospital and Medical Center, University of Nebraska, Omaha, NE, USA., Bissell MM; Leeds Institute of Cardiovascular and Metabolic Medicine, University of Leeds, Leeds, UK., Kim YY; Division of Cardiovascular Medicine, The Hospital of the University of Pennsylvania, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Michelena HI; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA., De Backer J; Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Mosquera LM; Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Hui DS; Department of Cardiothoracic Surgery, University of Texas Health Science Center, San Antonio, TX, USA., Caffarelli A; Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA, USA., Andreassi MG; Consiglio Nazionale delle Richerche (CNR), Instituto di Fisiologia Clinica, Pisa, Italy., Foffa I; Consiglio Nazionale delle Richerche (CNR), Instituto di Fisiologia Clinica, Pisa, Italy., Guo D; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Citro R; Cardiothoracic and Vascular Department, University Hospital 'San Giovanni di Dio e Ruggi d'Aragona,' Salerno, Italy., De Marco M; Department of Medicine, Surgery and Dentistry Schola Medica Salernitana, University of Salerno, Baronissi, Italy., Tretter JT; Cleveland Clinic, Cleveland, OH, USA., Morris SA; Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA., Body SC; Department of Anesthesiology, Boston University School of Medicine, Boston, MA, USA., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA., Milewicz DM; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Prakash SK; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA. Electronic address: siddharth.k.prakash@uth.tmc.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Oct 03; Vol. 111 (10), pp. 2219-2231. Date of Electronic Publication: 2024 Sep 02.

HOTAIR/miR-1277-5p/FBN2 signaling axis is involved in recurrent spontaneous abortion by regulating the growth, migration, and invasion of HTR-8/SVneo cells†.

Autor: Long N; Department of Reproductive Health, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, Guangdong, China., Sun RL; Department of Pathology, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, Guangdong, China., Lai QH; Department of Gynaecology, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, Guangdong, China., Lu MY; Department of Sample Library, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, Guangdong, China., Li XH; Department of Reproductive Health, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, Guangdong, China., Chen YN; Department of Gynaecology, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, Guangdong, China., Zhu DY; Department of Sample Library, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, Guangdong, China.

Publikováno v: Biology of reproduction [Biol Reprod] 2024 Jul 12; Vol. 111 (1), pp. 135-147.

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

Autor: Peeters S; Centre of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium., De Kinderen P; Centre of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium., Meester JAN; Centre of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium., Verstraeten A; Centre of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium., Loeys BL; Centre of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Human mutation [Hum Mutat] 2022 Jul; Vol. 43 (7), pp. 815-831. Date of Electronic Publication: 2022 Apr 28.