PMC Links for Protein (Select 257900483) - PMC

Select item 48535421.

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

Mohamed H Al-Hamed, Wesam Kurdi, Nada Alsahan, Zainab Alabdullah, Rania Abudraz, Maha Tulbah, Maha Alnemer, Rubina Khan, Haya Al-Jurayb, Ahmed Alahmed, Asma I Tahir, Dania Khalil, Noel Edwards, Basma Al Abdulaziz, Faisal S Binhumaid, Salma Majid, Tariq Faquih, Mohamed El-Kalioby, Mohamed Abouelhoda, Nada Altassan, Dorota Monies, Brian Meyer, John A Sayer, Mamdouh Albaqumi

J Med Genet. 2016 May; 53(5): 338–347. Published online 2016 Feb 9. doi: 10.1136/jmedgenet-2015-103469

PMCID:: PMC4853542

Abstract Article PDF–2.1M

Select item 46177012.

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A. Mans, Sylvia E. C. van Beersum, Ian G. Phelps, Heleen H. Arts, Jan E. Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B. Moens, Stephan C. F. Neuhauss, Hannie Kremer, Erwin van Wijk

PLoS Genet. 2015 Oct; 11(10): e1005575. Published online 2015 Oct 20. doi: 10.1371/journal.pgen.1005575

PMCID:: PMC4617701

Abstract Article PDF–13M

Select item 35225873.

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population

Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte

PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954

PMCID:: PMC3522587

Abstract Article PDF–130K

Select item 26747704.

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Andrew D. Paterson, Muhammad Lutufullah, Dan Doherty, John B. Vincent, Muhammad Ayub

Am J Hum Genet. 2008 Nov 17; 83(5): 656. doi: 10.1016/j.ajhg.2008.10.005

PMCID:: PMC2674770

Article PDF–32K

Select item 26680345.

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi, Karlien L.M. Coene, Stef J.F. Letteboer, Sylvia E.C. van Beersum, Dorus A. Mans, Abigail Hikida, Melissa Eckert, Dana Knutzen, Abdulrahman F. Alswaid, Hamit Özyurek, Sel Dibooglu, Edgar A. Otto, Yangfan Liu, Erica E. Davis, Carolyn M. Hutter, Theo K. Bammler, Frederico M. Farin, Michael Dorschner, Meral Topçu, Elaine H. Zackai, Phillip Rosenthal, Kelly N. Owens, Nicholas Katsanis, John B. Vincent, Friedhelm Hildebrandt, Edwin W. Rubel, David W. Raible, Nine V.A.M. Knoers, Phillip F. Chance, Ronald Roepman, Cecilia B. Moens, Ian A. Glass, Dan Doherty

Am J Hum Genet. 2008 Nov 17; 83(5): 559–571. doi: 10.1016/j.ajhg.2008.10.002

PMCID:: PMC2668034

Abstract Article PDF–1.0M

Select item 24273076.

Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

Jonna Tallila, Eveliina Jakkula, Leena Peltonen, Riitta Salonen, Marjo Kestilä

Am J Hum Genet. 2008 Jun 6; 82(6): 1361–1367. Published online 2008 May 30. doi: 10.1016/j.ajhg.2008.05.004

PMCID:: PMC2427307

Abstract Article PDF–815K

Select item 24272917.

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Zahid Kamal Siddiqui, Farooq Naeem, Andrew D. Paterson, Muhammad Lutfullah, John B. Vincent, Muhammad Ayub

Am J Hum Genet. 2008 Apr 11; 82(4): 1011–1018. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.021

PMCID:: PMC2427291

Abstract Article PDF–1.2M

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