换一批Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
第一作者：
Margaux,Serey-Gaut
第一单位：
Centre de génétique humaine, Université de Franche-Comté, Besançon, France. Electronic address: sereymargaux@gmail.com.
作者：
Margaux,Serey-Gaut [1]
;
Marisol,Cortes [2]
;
Periklis,Makrythanasis [3]
;
Mohnish,Suri [4]
;
Alexander M R,Taylor [5]
;
Jennifer A,Sullivan [6]
;
Ayat N,Asleh [2]
;
Jaba,Mitra [7]
;
Mohamad A,Dar [2]
;
Amy,McNamara [2]
;
Vandana,Shashi [6]
;
Sarah,Dugan [8]
;
Xiaofei,Song [9]
;
Jill A,Rosenfeld [10]
;
Christelle,Cabrol [11]
;
Justyna,Iwaszkiewicz [12]
;
Vincent,Zoete [13]
;
Davut,Pehlivan [14]
;
Zeynep Coban,Akdemir [15]
;
Elizabeth R,Roeder [16]
;
Rebecca Okashah,Littlejohn [16]
;
Harpreet K,Dibra [5]
;
Philip J,Byrd [5]
;
Grant S,Stewart [5]
;
Bilgen B,Geckinli [17]
;
Jennifer,Posey [18]
;
Rachel,Westman [8]
;
Chelsy,Jungbluth [8]
;
Jacqueline,Eason [4]
;
Rani,Sachdev [19]
;
Carey-Anne,Evans [20]
;
Gabrielle,Lemire [21]
;
Grace E,VanNoy [22]
;
Anne,O'Donnell-Luria [21]
;
Frédéric Tran,Mau-Them [23]
;
Aurélien,Juven [23]
;
Juliette,Piard [11]
;
Cheng Yee,Nixon [20]
;
Ying,Zhu [24]
;
Taekjip,Ha [7]
;
Michael F,Buckley [24]
;
Christel,Thauvin [25]
;
George K,Essien Umanah [2]
;
Lionel,Van Maldergem [26]
;
James R,Lupski [27]
;
Tony,Roscioli [28]
;
Valina L,Dawson [29]
;
Ted M,Dawson [30]
;
Stylianos E,Antonarakis [31]
作者单位：
Centre de génétique humaine, Université de Franche-Comté, Besançon, France. Electronic address: sereymargaux@gmail.com.
[1]
Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
[2]
Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece; Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
[3]
Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
[4]
Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
[5]
Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
[6]
Department of Biophysics and Biophysical Chemistry, Biophysics and Biomedical Engineering, JHU Howard Hughes Medical Institute, Baltimore, MD 21205, USA.
[7]
Providence Medical Group Genetic Clinics, Spokane, WA, USA.
[8]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA.
[9]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[10]
Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
[11]
Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland.
[12]
Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland; Computer-Aided Molecular Engineering, Department of Oncology, Ludwig Institute for Cancer Research Lausanne Branch, University of Lausanne, Lausanne, Switzerland.
[13]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France.
[14]
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; University Texas Health Science Center, Houston, TX 77030, USA.
[15]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
[16]
Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey.
[17]
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
[18]
Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.
[19]
Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia.
[20]
Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
[21]
Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
[22]
UF6254 Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
[23]
New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.
[24]
INSERM UMR1231 GAD, Bourgogne Franche-Comté University, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.
[25]
Centre de génétique humaine, Université de Franche-Comté, Besançon, France; Clinical Investigation Center 1431, National Institute of Health and Medical Research (INSERM), CHU, Besancon, France; EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France.
[26]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
[27]
Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.
[28]
Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
[29]
Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
[30]
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland. Electronic address: stylianos.antonarakis@unige.ch.
[31]
医学主题词
人类(Humans);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);小头畸形(Microcephaly);HEK293细胞(HEK293 Cells);TOR丝氨酸-苏氨酸激酶(TOR Serine-Threonine Kinases);动作障碍(Movement Disorders)
DOI
10.1016/j.ajhg.2023.01.006
PMID
36724785
发布时间
2023-09-03
基金项目
UM1 HG008900/HG/NHGRI NIH HHS/United States
C17183/A23303/CRUK_/Cancer Research UK/United Kingdom
R01 HG009141/HG/NHGRI NIH HHS/United States
UM1 HG006542/HG/NHGRI NIH HHS/United States
R35 NS105078/NS/NINDS NIH HHS/United States
K01 NS099362/NS/NINDS NIH HHS/United States
- 浏览3
American journal of human genetics
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