PMC Articles for MedGen (Select 860583) - PMC

Select item 74769451.

A novel homozygous variant in CANT1 causes Desbuquois dysplasia type 1 in a Chinese family and review of literatures

Lele Kuang, Bin Liu, Rui Peng, Di Xi, Yuping Gao

Int J Clin Exp Pathol. 2020; 13(8): 2137–2142. Published online 2020 Aug 1.

PMCID:: PMC7476945

Select item 31981352.

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Franco Laccone, Katharina Schoner, Birgit Krabichler, Britta Kluge, Robin Schwerdtfeger, Bernt Schulze, Johannes Zschocke, Helga Rehder

Eur J Hum Genet. 2011 Nov; 19(11): 1133–1137. Published online 2011 Jun 8. doi: 10.1038/ejhg.2011.101

PMCID:: PMC3198135

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Select item 65988593.

Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification

Chiara Paganini, Luca Monti, Rossella Costantini, Roberta Besio, Silvia Lecci, Marco Biggiogera, Kun Tian, Jean-Marc Schwartz, Céline Huber, Valérie Cormier-Daire, Beth G. Gibson, Katarzyna A. Pirog, Antonella Forlino, Antonio Rossi

Matrix Biol. 2019 Aug; 81: 70–90. doi: 10.1016/j.matbio.2018.11.002

PMCID:: PMC6598859

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Select item 84310314.

Phenotypic Characterization of Immortalized Chondrocytes from a Desbuquois Dysplasia Type 1 Mouse Model: A Tool for Studying Defects in Glycosaminoglycan Biosynthesis

Chiara Gramegna Tota, Beatrice Valenti, Antonella Forlino, Antonio Rossi, Chiara Paganini

Int J Mol Sci. 2021 Sep; 22(17): 9304. Published online 2021 Aug 27. doi: 10.3390/ijms22179304

PMCID:: PMC8431031

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Select item 27693825.

Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature

Ali Al Kaissi, Klaus Klaushofer, Franz Grill

Cases J. 2009; 2: 7873. Published online 2009 Sep 15. doi: 10.4076/1757-1626-2-7873

PMCID:: PMC2769382

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Select item 87908796.

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report

Fatemeh Rajabi, Ali Hosseini Bereshneh, Mahboubeh Ramezanzadeh, Masoud Garshasbi

BMC Pediatr. 2022; 22: 63. Published online 2022 Jan 26. doi: 10.1186/s12887-022-03132-5

PMCID:: PMC8790879

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Select item 74876777.

Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function

Hong-Dan Wang, Liang-Jie Guo, Zhan-Qi Feng, Da-Wei Zhang, Meng-Ting Zhang, Yue Gao, Chuan-Liang Chen, Bo-Feng Zhu

Orphanet J Rare Dis. 2020; 15: 240. Published online 2020 Sep 9. doi: 10.1186/s13023-020-01492-8

PMCID:: PMC7487677

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Select item 73610358.

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scott

J Med Genet. 2020 Jul; 57(7): 454–460. Published online 2020 Jan 27. doi: 10.1136/jmedgenet-2019-106700

PMCID:: PMC7361035

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Select item 72629219.

CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage

Kazuki Kodama, Hiroaki Takahashi, Nobuyasu Oiji, Kenta Nakano, Tadashi Okamura, Kimie Niimi, Eiki Takahashi, Long Guo, Shiro Ikegawa, Tatsuya Furuichi

FEBS Open Bio. 2020 Jun; 10(6): 1096–1103. Published online 2020 Apr 23. doi: 10.1002/2211-5463.12859

PMCID:: PMC7262921

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Select item 658327110.

Re‐alignment‐procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes

Ali Al Kaissi, Rudolf Ganger, Katharina M. Roetzer, Thomas Schwarzbraun, Klaus Klaushofer, Franz Grill

Orthop Surg. 2013 Feb; 5(1): 33–39. Published online 2013 Feb 18. doi: 10.1111/os.12023

PMCID:: PMC6583271

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Select item 632355211.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Amy J. LaCroix, Deborah Stabley, Rebecca Sahraoui, Margaret P. Adam, Michele Mehaffey, Kelly Kernan, Candace T. Myers, Carrie Fagerstrom, George Anadiotis, Yassmine M. Akkari, Katherine M. Robbins, Karen W. Gripp, Wagner A.R. Baratela, Michael B. Bober, Angela L. Duker, Dan Doherty, Jennifer C. Dempsey, Daniel G. Miller, Martin Kircher, Michael J. Bamshad, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Heather C. Mefford, Katia Sol-Church

Am J Hum Genet. 2019 Jan 3; 104(1): 35–44. Published online 2018 Dec 13. doi: 10.1016/j.ajhg.2018.11.005

PMCID:: PMC6323552

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Select item 556441812.

MED Resulting from Recessively-Inherited Mutations in the Gene Encoding Calcium-Activated Nucleotidase CANT1

Karthika Balasubramanian, Bing Li, Deborah Krakow, Lisette Nevarez, Patric J. Ho, Julia A. Ainsworth, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, LaDonna Immken, Ralph S. Lachman, Daniel H. Cohn

Am J Med Genet A. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Am J Med Genet A. 2017 Sep; 173(9): 2415–2421. Published online 2017 Jul 25. doi: 10.1002/ajmg.a.38349

PMCID:: PMC5564418

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Select item 463708813.

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

Shuji Mizumoto, Shuhei Yamada, Kazuyuki Sugahara

Biomed Res Int. 2015; 2015: 861752. Published online 2015 Oct 25. doi: 10.1155/2015/861752

PMCID:: PMC4637088

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Select item 426674414.

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

François Cartault, Patrick Munier, Marie-Line Jacquemont, Jeannine Vellayoudom, Bérénice Doray, Christine Payet, Hanitra Randrianaivo, Jean-Marc Laville, Arnold Munnich, Valérie Cormier-Daire

Eur J Hum Genet. 2015 Jan; 23(1): 49–53. Published online 2014 Apr 23. doi: 10.1038/ejhg.2014.60

PMCID:: PMC4266744

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Select item 408558315.

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Asbjørg Stray-Pedersen, Paul H. Backe, Hanne S. Sorte, Lars Mørkrid, Niti Y. Chokshi, Hans Christian Erichsen, Tomasz Gambin, Katja B.P. Elgstøen, Magnar Bjørås, Marcin W. Wlodarski, Marcus Krüger, Shalini N. Jhangiani, Donna M. Muzny, Ankita Patel, Kimiyo M. Raymond, Ghadir S. Sasa, Robert A. Krance, Caridad A. Martinez, Shirley M. Abraham, Carsten Speckmann, Stephan Ehl, Patricia Hall, Lisa R. Forbes, Else Merckoll, Jostein Westvik, Gen Nishimura, Cecilie F. Rustad, Tore G. Abrahamsen, Arild Rønnestad, Liv T. Osnes, Torstein Egeland, Olaug K. Rødningen, Christine R. Beck, Baylor-Johns Hopkins Center for Mendelian Genomics, Eric A. Boerwinkle, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Ekkehart Lausch, I. Celine Hanson

Am J Hum Genet. 2014 Jul 3; 95(1): 96–107. doi: 10.1016/j.ajhg.2014.05.007

PMCID:: PMC4085583

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Select item 395194516.

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Catherine Bui, Céline Huber, Beyhan Tuysuz, Yasemin Alanay, Christine Bole-Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschke, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2014 Mar 6; 94(3): 405–414. doi: 10.1016/j.ajhg.2014.01.020

PMCID:: PMC3951945

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Select item 342790617.

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

Mathilde Nizon, Céline Huber, Fabio De Leonardis, Rodolphe Merrina, Antonella Forlino, Mélanie Fradin, Beyhan Tuysuz, Bassam Y Abu-Libdeh, Yasemin Alanay, Beate Albrecht, Lihadh Al-Gazali, Sarenur Yilmaz Basaran, Jill Clayton-Smith, Julie Désir, Harinder Gill, Marie T Greally, Erkan Koparir, Merel C van Maarle, Sara MacKay, Geert Mortier, Jenny Morton, David Sillence, Catheline Vilain, Ian Young, Klaus Zerres, Martine Le Merrer, Arnold Munnich, Carine Le Goff, Antonio Rossi, Valérie Cormier-Daire

Hum Mutat. 2012 Aug; 33(8): 1261–1266. Published online 2012 Apr 26. doi: 10.1002/humu.22104

PMCID:: PMC3427906

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Select item 277582818.

Identification of CANT1 Mutations in Desbuquois Dysplasia

Céline Huber, Bénédicte Oulès, Marta Bertoli, Mounia Chami, Mélanie Fradin, Yasemin Alanay, Lihadh I. Al-Gazali, Margreet G.E.M. Ausems, Pierre Bitoun, Denise P. Cavalcanti, Alexander Krebs, Martine Le Merrer, Geert Mortier, Yousef Shafeghati, Andrea Superti-Furga, Stephen P. Robertson, Carine Le Goff, Andrea Onetti Muda, Patrizia Paterlini-Bréchot, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2009 Nov 13; 85(5): 706–710. doi: 10.1016/j.ajhg.2009.10.001

PMCID:: PMC2775828

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