Literature DB >> 25997910

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.

Tawfeg Ben-Omran1, Reem Alsulaiman1, Hussein Kamel2, Ranad Shaheen3, Fowzan S Alkuraya3,4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 25997910     DOI： 10.1002/ajmg.a.37175

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  6 in total

Review 1.  Primary cilia proteins: ciliary and extraciliary sites and functions.

Authors:  Kiet Hua; Russell J Ferland
Journal:  Cell Mol Life Sci       Date:  2018-01-05       Impact factor: 9.261

2.  GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.

Authors:  Hanan E Shamseldin; Alexis H Bennett; Majid Alfadhel; Vandana Gupta; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-01-07       Impact factor: 4.132

3.  RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Authors:  Hanan Shamseldin; Anas M Alazami; Melanie Manning; Amal Hashem; Oana Caluseiu; Brahim Tabarki; Edward Esplin; Susan Schelley; A Micheil Innes; Jillian S Parboosingh; Ryan Lamont; Jacek Majewski; Francois P Bernier; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2015-11-19       Impact factor: 11.025

4.  KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

Authors:  Anna A W M Sanders; Erik de Vrieze; Anas M Alazami; Fatema Alzahrani; Erik B Malarkey; Nasrin Sorusch; Lars Tebbe; Stefanie Kuhns; Teunis J P van Dam; Amal Alhashem; Brahim Tabarki; Qianhao Lu; Nils J Lambacher; Julie E Kennedy; Rachel V Bowie; Lisette Hetterschijt; Sylvia van Beersum; Jeroen van Reeuwijk; Karsten Boldt; Hannie Kremer; Robert A Kesterson; Dorota Monies; Mohamed Abouelhoda; Ronald Roepman; Martijn H Huynen; Marius Ueffing; Rob B Russell; Uwe Wolfrum; Bradley K Yoder; Erwin van Wijk; Fowzan S Alkuraya; Oliver E Blacque
Journal:  Genome Biol       Date:  2015-12-29       Impact factor: 13.583

5.  Characterizing the morbid genome of ciliopathies.

Authors:  Ranad Shaheen; Katarzyna Szymanska; Basudha Basu; Nisha Patel; Nour Ewida; Eissa Faqeih; Amal Al Hashem; Nada Derar; Hadeel Alsharif; Mohammed A Aldahmesh; Anas M Alazami; Mais Hashem; Niema Ibrahim; Firdous M Abdulwahab; Rawda Sonbul; Hisham Alkuraya; Maha Alnemer; Saeed Al Tala; Muneera Al-Husain; Heba Morsy; Mohammed Zain Seidahmed; Neama Meriki; Mohammed Al-Owain; Saad AlShahwan; Brahim Tabarki; Mustafa A Salih; Tariq Faquih; Mohamed El-Kalioby; Marius Ueffing; Karsten Boldt; Clare V Logan; David A Parry; Nada Al Tassan; Dorota Monies; Andre Megarbane; Mohamed Abouelhoda; Anason Halees; Colin A Johnson; Fowzan S Alkuraya
Journal:  Genome Biol       Date:  2016-11-28       Impact factor: 13.583

6.  Identifies microtubule-binding protein CSPP1 as a novel cancer biomarker associated with ferroptosis and tumor microenvironment.

Authors:  Wenwen Wang; Jingjing Zhang; Yuqing Wang; Yasi Xu; Shirong Zhang
Journal:  Comput Struct Biotechnol J       Date:  2022-06-24       Impact factor: 6.155
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.