Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth-Reference-Cited by-同舟云学术

Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

Published:2020-07-15 Issue:9 Volume:41 Page:1645-1661
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Harms Frederike L.¹,Parthasarathy Padmini²,Zorndt Dennis¹,Alawi Malik³,Fuchs Sigrid¹,Halliday Benjamin J.²,McKeown Colina⁴,Sampaio Hugo⁵⁶,Radhakrishnan Natasha⁷,Radhakrishnan Suresh K.⁸,Gorce Magali⁹,Navet Benjamin¹⁰¹¹,Ziegler Alban¹⁰¹¹^ORCID,Sachdev Rani⁴,Robertson Stephen P.²,Nampoothiri Sheela¹²,Kutsche Kerstin¹^ORCID

Affiliation:

1. Institute of Human Genetics University Medical Center Hamburg‐Eppendorf Hamburg Germany

2. Department of Women's and Children's Health, Dunedin School of Medicine University of Otago Dunedin New Zealand

3. Bioinformatics Core University Medical Center Hamburg‐Eppendorf Hamburg Germany

4. Centre for Clinical Genetics Sydney Children's Hospital Randwick NSW Australia

5. Department of Women and Children's Health University of New South Wales, Randwick Campus Randwick NSW Australia

6. Sydney Children's Hospital Randwick NSW Australia

7. Department of Ophthalmology Amrita Institute of Medical Sciences and Research Centre Cochin Kerala India

8. Department of Neurology Amrita Institute of Medical Sciences and Research Centre Cochin Kerala India

9. Department of Metabolic Disease Children University Hospital Toulouse France

10. Department of Biochemistry and Genetics University Hospital of Angers Angers France

11. MitoLab Institut MitoVasc, UMR CNRS6015, INSERM U1083 Angers France

12. Department of Pediatric Genetics Amrita Institute of Medical Sciences and Research Centre Cochin Kerala India

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24071

Reference85 articles.

1. TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

2. SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

3. TBC1D7Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease

4. Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

5. TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons

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1. Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis;International Journal of Molecular Sciences;2024-08-15

2. ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review;American Journal of Medical Genetics Part A;2024-03-22

3. Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth;European Journal of Human Genetics;2024-02-19

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