PMC Articles for MedGen (Select 864138) - PMC

Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant

Dis Model Mech. 2022 Dec 1; 15(12): dmm049568. Published online 2022 Dec 19. doi: 10.1242/dmm.049568

PMCID:: PMC9844136

Abstract Article

Select item 86836964.

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer

Mol Genet Genomic Med. 2021 Dec; 9(12): e1603. Published online 2021 Jan 24. doi: 10.1002/mgg3.1603

PMCID:: PMC8683696

Abstract Article PDF–1.5M

Select item 83043145.

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel

Genes (Basel) 2021 Jul; 12(7): 1078. Published online 2021 Jul 16. doi: 10.3390/genes12071078

PMCID:: PMC8304314

Abstract Article PDF–606K

Select item 65030126.

A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

Konstantin Ridnõi, Marek Šois, Eve Vaidla, Sander Pajusalu, Larissa Kelder, Tiia Reimand, Katrin Õunap

Mol Genet Genomic Med. 2019 May; 7(5): e614. Published online 2019 Mar 9. doi: 10.1002/mgg3.614

PMCID:: PMC6503012

Abstract Article PDF–411K

Select item 49201727.

Primary cilia maintain corneal epithelial homeostasis by regulation of the Notch signaling pathway

Laura Grisanti, Ekaterina Revenkova, Ronald E. Gordon, Carlo Iomini

Development. 2016 Jun 15; 143(12): 2160–2171. doi: 10.1242/dev.132704

PMCID:: PMC4920172

Abstract Article

Select item 47496648.

A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4

Svetlana V. Masyukova, Dawn E. Landis, Scott J. Henke, Corey L. Williams, Jay N. Pieczynski, Kelly N. Roszczynialski, Jannese E. Covington, Erik B. Malarkey, Bradley K. Yoder

PLoS Genet. 2016 Feb; 12(2): e1005841. Published online 2016 Feb 10. doi: 10.1371/journal.pgen.1005841

PMCID:: PMC4749664

Abstract Article PDF–6.6M

Select item 47006009.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Christopher M. Watson, Laura A. Crinnion, Ian R. Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S. Charlton, Angus Dobbie, Ian M. Carr, David T. Bonthron

BMC Med Genet. 2016; 17: 1. Published online 2016 Jan 4. doi: 10.1186/s12881-015-0265-z

PMCID:: PMC4700600

Abstract Article PDF–935K

Select item 385496910.

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

Sebiha Cevik, Anna A. W. M. Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I. Kaplan, Sylvia E. C. van Beersum, Ka Man Wu, Stef J. F. Letteboer, Dorus A. Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E. Blacque

PLoS Genet. 2013 Dec; 9(12): e1003977. Published online 2013 Dec 5. doi: 10.1371/journal.pgen.1003977

PMCID:: PMC3854969

Abstract Article PDF–2.6M

Select item 377834311.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben-Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M de Jong, Hulya Kayserili, Gonul Ogur, Andrea Poretti, Sabrina Signorini, Graziella Uziel, Maha S Zaki, the International JSRD Study Group, Colin Johnson, Tania Attié-Bitach, Joseph G Gleeson, Enza Maria Valente

Eur J Hum Genet. 2013 Oct; 21(10): 1074–1078. Published online 2013 Feb 6. doi: 10.1038/ejhg.2012.305

PMCID:: PMC3778343

Abstract Article PDF–471K

Select item 372295212.

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

Ranad Shaheen, Eissa Faqeih, Muneera J Alshammari, Abdulrahman Swaid, Lihadh Al-Gazali, Elham Mardawi, Shinu Ansari, Sameera Sogaty, Mohammed Z Seidahmed, Muhammed I AlMotairi, Chantal Farra, Wesam Kurdi, Shatha Al-Rasheed, Fowzan S Alkuraya

Eur J Hum Genet. 2013 Jul; 21(7): 762–768. Published online 2012 Nov 21. doi: 10.1038/ejhg.2012.254

PMCID:: PMC3722952

Abstract Article PDF–1.4M

Select item 321482013.

Differential Expression of Renal Proteins in a Rodent Model of Meckel Syndrome

Stephen B. Mason, Xianyin Lai, Heather N. Ringham, Robert L. Bacallao, Peter C. Harris, Frank A. Witzmann, Vincent H. Gattone, II

Nephron Exp Nephrol. 2011 Jan; 117(2): e31–e38. Published online 2010 Aug 6. doi: 10.1159/000319722

PMCID:: PMC3214820

Abstract Article PDF–393K

Select item 310999814.

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

Katharina Hopp, Christina M. Heyer, Cynthia J. Hommerding, Susan A. Henke, Jamie L. Sundsbak, Shail Patel, Priyanka Patel, Mark B. Consugar, Peter G. Czarnecki, Troy J. Gliem, Vicente E. Torres, Sandro Rossetti, Peter C. Harris

Hum Mol Genet. 2011 Jul 1; 20(13): 2524–2534. Published online 2011 Apr 14. doi: 10.1093/hmg/ddr151

PMCID:: PMC3109998

Abstract Article PDF–371K

Select item 301627415.

Two distinct regions in the model protein Peb1 are critical for its heterologous transport out of Escherichia coli

Lena Anton, Katariina Majander, Harri Savilahti, Liisa Laakkonen, Benita Westerlund-Wikström

Microb Cell Fact. 2010; 9: 97. Published online 2010 Dec 2. doi: 10.1186/1475-2859-9-97

PMCID:: PMC3016274

Abstract Article PDF–2.7M

Select item 291878116.

Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D'Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, Elizabeth Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes.Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attie-Bitach, Enza Maria Valente

Hum Mutat. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Hum Mutat. 2010 May; 31(5): E1319–E1331. doi: 10.1002/humu.21239

PMCID:: PMC2918781

Abstract Article PDF–166K

Select item 271832617.

Mutation Spectrum of Meckel Syndrome Genes: One Group of Syndromes or Several Distinct Groups?

Jonna Tallila, Riitta Salonen, Nicolai Kohlschmidt, Leena Peltonen, Marjo Kestilä

Hum Mutat. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Hum Mutat. 2009 Aug; 30(8): E813–E830. doi: 10.1002/humu.21057

PMCID:: PMC2718326

Abstract Article PDF–289K

Select item 195092918.

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie-Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzales, Eleanor Rattenberry, Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie-Christine Dauge, Joëlle Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Françoise Menez, Anne-Marie Beaufrère, Christine Francannet, Julia Tantau, Martine Sinico, Yves Dumez, Fiona MacDonald, Arnold Munnich, Stanislas Lyonnet, Marie-Claire Gubler, Emmanuelle Génin, Colin A. Johnson, Michel Vekemans, Férechté Encha-Razavi, Tania Attié-Bitach

Am J Hum Genet. 2007 Jul; 81(1): 170–179. Published online 2007 Jun 4. doi: 10.1086/519494

PMCID:: PMC1950929

Abstract Article PDF–960K

Select item 105134519.

Meckel syndrome.

R Salonen, P Paavola

J Med Genet. 1998 Jun; 35(6): 497–501. doi: 10.1136/jmg.35.6.497

PMCID:: PMC1051345

Summary Page Browse PDF–1.8M

Select item 105115220.

Genetic heterogeneity of Meckel syndrome.

J Roume, H W Ma, M Le Merrer, V Cormier-Daire, D Girlich, E Genin, A Munnich

J Med Genet. 1997 Dec; 34(12): 1003–1006. doi: 10.1136/jmg.34.12.1003

PMCID:: PMC1051152

Summary Page Browse PDF–814K

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