PMC Articles for MedGen (Select 120629) - PMC

Select item 66404981.

NPR1 and EDS11 contribute to host resistance against Fusarium culmorum in Arabidopsis buds and flowers

ALAYNE CUZICK, SARAH LEE, SALVADOR GEZAN, KIM E. HAMMOND‐KOSACK

Mol Plant Pathol. 2008 Sep; 9(5): 697–704. Published online 2008 Jun 28. doi: 10.1111/j.1364-3703.2008.00488.x

PMCID:: PMC6640498

Select item 30903992.

Identification of Hyaloperonospora arabidopsidis Transcript Sequences Expressed during Infection Reveals Isolate-Specific Effectors

Adriana Cabral, Joost H. M. Stassen, Michael F. Seidl, Jaqueline Bautor, Jane E. Parker, Guido Van den Ackerveken

PLoS One. 2011; 6(5): e19328. Published online 2011 May 9. doi: 10.1371/journal.pone.0019328

PMCID:: PMC3090399

Abstract Article PDF–990K

Select item 14601963.

Isolation of new Arabidopsis mutants with enhanced disease susceptibility to Pseudomonas syringae by direct screening.

S M Volko, T Boller, F M Ausubel

Genetics. 1998 Jun; 149(2): 537–548. doi: 10.1093/genetics/149.2.537

PMCID:: PMC1460196

Summary PDF–205K

Select item 90226174.

Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature

Ashley Monaco, Diane Choi, Serife Uzun, Anne Maitland, Bernadette Riley

Immunol Res. 2022; 70(4): 419–431. Published online 2022 Apr 21. doi: 10.1007/s12026-022-09280-1

PMCID:: PMC9022617

Abstract Article PDF–776K

Select item 81721995.

Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Na Ma, Zhenhua Zhu, Jing Liu, Ying Peng, Xiaomeng Zhao, Weiling Tang, Zhengjun Jia, Hui Xi, Bodi Gao, Hua Wang, Juan Du

Mol Genet Genomic Med. 2021 May; 9(5): e1632. Published online 2021 Apr 8. doi: 10.1002/mgg3.1632

PMCID:: PMC8172199

Abstract Article PDF–960K

Select item 77856936.

Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

Cortney Gensemer, Randall Burks, Steven Kautz, Daniel P. Judge, Mark Lavallee, Russell A. Norris

Dev Dyn. Author manuscript; available in PMC 2021 Mar 2.

Published in final edited form as: Dev Dyn. 2021 Mar; 250(3): 318–344. Published online 2020 Aug 17. doi: 10.1002/dvdy.220

PMCID:: PMC7785693

Abstract Article PDF–649K

Select item 77661847.

Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori

Genes (Basel) 2020 Dec; 11(12): 1513. Published online 2020 Dec 17. doi: 10.3390/genes11121513

PMCID:: PMC7766184

Abstract Article PDF–1.9M

Select item 67707918.

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

Marco Ritelli, Valeria Cinquina, Edoardo Giacopuzzi, Marina Venturini, Nicola Chiarelli, Marina Colombi

Genes (Basel) 2019 Sep; 10(9): 631. Published online 2019 Aug 21. doi: 10.3390/genes10090631

PMCID:: PMC6770791

Abstract Article PDF–2.0M

Select item 66932599.

Patient-reported outcomes in patients with cystic fibrosis with a G551D mutation on ivacaftor treatment: results from a cross-sectional study

Scott C. Bell, Jochen G. Mainz, Gordon MacGregor, Susan Madge, Julie Macey, Moshe Fridman, Ellison D. Suthoff, Siva Narayanan, Nils Kinnman

BMC Pulm Med. 2019; 19: 146. Published online 2019 Aug 13. doi: 10.1186/s12890-019-0887-6

PMCID:: PMC6693259

Abstract Article PDF–996K

Select item 367523310.

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, Ryo Kogawa, Aritoshi Iida, Hironori Ito, Hiroshi Kitoh, Aya Hirayama, Hiroshi Mitsubuchi, Osamu Miyazaki, Rika Kosaki, Reiko Horikawa, Angeline Lai, Roberto Mendoza-Londono, Lucie Dupuis, David Chitayat, Andrew Howard, Gabriela F. Leal, Denise Cavalcanti, Yoshinori Tsurusaki, Hirotomo Saitsu, Shigehiko Watanabe, Ekkehart Lausch, Sheila Unger, Luisa Bonafé, Hirofumi Ohashi, Andrea Superti-Furga, Naomichi Matsumoto, Kazuyuki Sugahara, Gen Nishimura, Shiro Ikegawa

Am J Hum Genet. 2013 Jun 6; 92(6): 927–934. doi: 10.1016/j.ajhg.2013.04.003

PMCID:: PMC3675233

Abstract Article PDF–405K

Select item 347106411.

Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

Trinh Hermanns-Lê, Marie-Annick Reginster, Claudine Piérard-Franchimont, Philippe Delvenne, Gérald E. Piérard, Daniel Manicourt

J Biomed Biotechnol. 2012; 2012: 878107. Published online 2012 Oct 3. doi: 10.1155/2012/878107

PMCID:: PMC3471064

Abstract Article PDF–1.0M

Select item 312145312.

Regulation of Collagen Fibril Nucleation and Initial Fibril Assembly Involves Coordinate Interactions with Collagens V and XI in Developing Tendon

Richard J. Wenstrup, Simone M. Smith, Jane B. Florer, Guiyun Zhang, David P. Beason, Robert E. Seegmiller, Louis J. Soslowsky, David E. Birk

J Biol Chem. 2011 Jun 10; 286(23): 20455–20465. Published online 2011 Apr 5. doi: 10.1074/jbc.M111.223693

PMCID:: PMC3121453

Abstract Article PDF–3.9M

Select item 137729013.

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.

N P Burrows, A C Nicholls, A J Richards, C Luccarini, J B Harrison, J R Yates, F M Pope

Am J Hum Genet. 1998 Aug; 63(2): 390–398. doi: 10.1086/301948

PMCID:: PMC1377290

Summary PDF–3.1M

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