Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans-Reference-Cited by-同舟云学术

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Published:2020-02-20 Issue:6 Volume:71 Page:2067-2079
ISSN:0270-9139
Container-title:Hepatology
language:en
Short-container-title:Hepatology

Author:

Shaheen Ranad¹^ORCID,Alsahli Saud¹,Ewida Nour¹,Alzahrani Fatema¹,Shamseldin Hanan E.¹,Patel Nisha¹,Al Qahtani Awad²,Alhebbi Homoud²,Alhashem Amal³⁴,Al‐Sheddi Tarfa¹,Alomar Rana¹,Alobeid Eman¹,Abouelhoda Mohamed¹⁵,Monies Dorota¹⁵,Al‐Hussaini Abdulrahman⁶⁷⁸,Alzouman Muneerah A.⁹,Shagrani Mohammad⁷¹⁰,Faqeih Eissa⁶,Alkuraya Fowzan S.¹⁴⁵

Affiliation:

1. Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

2. Department of Pediatric Gastroenterology & Hepatologist Prince Sultan Military Medical City Riyadh Saudi Arabia

3. Department of Pediatric Prince Sultan Medical Military City Riyadh Saudi Arabia

4. Department of Anatomy and Cell Biology College of Medicine Alfaisal University Riyadh Saudi Arabia

5. Saudi Human Genome Program King Abdulaziz City for Science and Technology Riyadh Saudi Arabia

6. Department of Pediatric Subspecialties Children’s Hospital King Fahad Medical City Riyadh Saudi Arabia

7. College of Medicine Alfaisal University Riyadh Saudi Arabia

8. Prince Abdullah Bin Khaled Celiac Disease Research Chair, Department of Pediatrics, Faculty of Medicine King Saud University Riyadh Saudi Arabia

9. Histopathology Division Central Military Laboratory and Blood Bank Prince Sultan Military Medical City Riyadh Saudi Arabia

10. King Faisal Specialist Hospital and Research Center, Organ Transplant Centre Riyadh Saudi Arabia

Funder

King Abdulaziz City for Science and Technology

Publisher

Wiley

Subject

Hepatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/hep.30982

Reference35 articles.

1. The primary cilium: a signalling centre during vertebrate development

2. Switching on cilia: transcriptional networks regulating ciliogenesis

3. The primary cilium

4. Characterizing the morbid genome of ciliopathies

5. Planar cell polarity in development and disease

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