PMC Articles for MedGen (Select 324684) - PMC

Select item 63647791.

Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability

Rosemary B. Cornell, Svetla G. Taneva, Melissa K. Dennis, Ronnie Tse, Randeep K. Dhillon, Jaeyong Lee

J Biol Chem. 2019 Feb 1; 294(5): 1490–1501. Published online 2018 Dec 17. doi: 10.1074/jbc.RA118.006457

PMCID:: PMC6364779

Select item 38829132.

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Guilherme L. Yamamoto, Wagner A.R. Baratela, Tatiana F. Almeida, Monize Lazar, Clara L. Afonso, Maria K. Oyamada, Lisa Suzuki, Luiz A.N. Oliveira, Ester S. Ramos, Chong A. Kim, Maria Rita Passos-Bueno, Débora R. Bertola

Am J Hum Genet. 2014 Jan 2; 94(1): 113–119. doi: 10.1016/j.ajhg.2013.11.022

PMCID:: PMC3882913

Abstract Article PDF–1.1M

Select item 53923603.

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy

Francesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, Giuseppina Di Fruscio, Valentina Di Iorio, Mariateresa Pizzo, Annalaura Torella, Maria Rosaria Barillari, Vincenzo Nigro, Nicola Brunetti-Pierri, Francesca Simonelli, Sandro Banfi

Eur J Hum Genet. 2017 May; 25(5): 651–655. Published online 2017 Mar 8. doi: 10.1038/ejhg.2017.23

PMCID:: PMC5392360

Abstract Article PDF–1.7M

Select item 82156824.

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Salma Ben-Salem, Sarah M Robbins, Nara LM Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali

J Med Genet. Author manuscript; available in PMC 2021 Jun 21.

Published in final edited form as: J Med Genet. 2018 Feb; 55(2): 122–130. Published online 2017 Nov 9. doi: 10.1136/jmedgenet-2017-104827

PMCID:: PMC8215682

Abstract Article PDF–1.5M

Select item 47909055.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A. Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa

PLoS One. 2016; 11(3): e0150555. Published online 2016 Mar 14. doi: 10.1371/journal.pone.0150555

PMCID:: PMC4790905

Abstract Article PDF–6.3M

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