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Items: 1 to 20 of 217

1.
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation
Robert M. Harmon, Cory L. Simpson, Jodi L. Johnson, Jennifer L. Koetsier, Adi D. Dubash, Nicole A. Najor, Ofer Sarig, Eli Sprecher, Kathleen J. Green
J Clin Invest. 2013 Apr 1; 123(4): 1556–1570. Published online 2013 Mar 25. doi: 10.1172/JCI65220
PMCID:
PMC3613912
AbstractArticlePDF–4.5M
2.
Neonatal Marfan syndrome: a successful early multidisciplinary approach
Marta Amado, Maria Angelina Calado, Rui Ferreira, Teresa Lourenço
BMJ Case Rep. 2014; 2014: bcr2013202438. Published online 2014 Jun 13. doi: 10.1136/bcr-2013-202438
PMCID:
PMC4069814
AbstractArticlePDF–611K
3.
Dermatological Phenotype in Costello Syndrome: Consequences of Ras Dysregulation in Development
D.H. Siegel, J.A. Mann, A.L. Krol, K.A. Rauen
Br J Dermatol. Author manuscript; available in PMC 2014 Jun 19.
Published in final edited form as: Br J Dermatol. 2012 Mar; 166(3): 601–607. doi: 10.1111/j.1365-2133.2011.10744.x
PMCID:
PMC4063554
AbstractArticlePDF–657K
4.
Pbx Proteins in Cryptococcus neoformans Cell Wall Remodeling and Capsule Assembly
Pardeep Kumar, Christian Heiss, Felipe H. Santiago-Tirado, Ian Black, Parastoo Azadi, Tamara L. Doering
Eukaryot Cell. 2014 May; 13(5): 560–571. doi: 10.1128/EC.00290-13
PMCID:
PMC4060484
AbstractArticlePDF–1.3M
5.
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
Marianne Rohrbach, Helen L. Spencer, Louise F. Porter, Emma M.M. Burkitt-Wright, Céline Bürer, Andreas Janecke, Madhura Bakshi, David Sillence, Hailah Al-Hussain, Matthias Baumgartner, Beat Steinmann, Graeme C.M. Black, Forbes D.C. Manson, Cecilia Giunta
Mol Genet Metab. 2013 Jul; 109(3): 289–295. doi: 10.1016/j.ymgme.2013.04.014
PMCID:
PMC3925994
AbstractArticlePDF–607K
6.
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni, Bruno Dallapiccola
BMC Med Genet. 2014; 15: 14. Published online 2014 Jan 23. doi: 10.1186/1471-2350-15-14
PMCID:
PMC3915031
AbstractArticlePDF–2.0M
7.
Molecular Mechanisms of Classical Ehlers-Danlos Syndrome
Anna L. Mitchell, Ulrike Schwarze, Jessica F. Jennings, Peter H. Byers
Hum Mutat. Author manuscript; available in PMC 2013 Nov 14.
Published in final edited form as: Hum Mutat. 2009 Jun; 30(6): 10.1002/humu.21000. doi: 10.1002/humu.21000
PMCID:
PMC3827857
AbstractArticlePDF–697K
8.
Functional delineation of rice MADS29 reveals its role in embryo and endosperm development by affecting hormone homeostasis
Saraswati Nayar, Rita Sharma, Akhilesh Kumar Tyagi, Sanjay Kapoor
J Exp Bot. 2013 Nov; 64(14): 4239–4253. Published online 2013 Aug 8. doi: 10.1093/jxb/ert231
PMCID:
PMC3808311
AbstractArticlePDF–7.6M
9.
Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis
Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley, Katia Sol-Church
Am J Med Genet A. Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: Am J Med Genet A. 2013 Oct; 161(10): 2420–2430. Published online 2013 Aug 5. doi: 10.1002/ajmg.a.36098
PMCID:
PMC3787995
AbstractArticlePDF–2.9M
10.
Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome Molecular, Cellular, and Clinical Features From a French National Survey
Marie-Olivia Chandesris, Isabelle Melki, Angels Natividad, Anne Puel, Claire Fieschi, Ling Yun, Caroline Thumerelle, Eric Oksenhendler, David Boutboul, Caroline Thomas, Cyrille Hoarau, Yvon Lebranchu, Jean-Louis Stephan, Celine Cazorla, Nathalie Aladjidi, Marguerite Micheau, Fran[cedil]cois Tron, Andre Baruchel, Vincent Barlogis, Gilles Palenzuela, Catherine Mathey, Stephane Dominique, Gerard Body, Martine Munzer, Fanny Fouyssac, Rolland Jaussaud, Brigitte Bader-Meunier, Nizar Mahlaoui, Stephane Blanche, Marianne Debre, Muriel Le Bourgeois, Virginie Gandemer, Nathalie Lambert, Virginie Grandin, Stephanie Ndaga, Corinne Jacques, Chantal Harre, Monique Forveille, Marie-Alexandra Alyanakian, Anne Durandy, Christine Bodemer, Felipe Suarez, Olivier Hermine, Olivier Lortholary, Jean-Laurent Casanova, Alain Fischer, Capucine Picard
Medicine (Baltimore) Author manuscript; available in PMC 2013 Jul 1.
Published in final edited form as: Medicine (Baltimore). 2012 Jul; 91(4): e1–19. doi: 10.1097/MD.0b013e31825f95b9
PMCID:
PMC3680355
AbstractArticlePDF–1.3M
11.
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
AbstractArticlePDF–405K
12.
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg, Vanesa López-González, Geert Mortier, Sheela Nampoothiri, Michael Bjorn Petersen, Anne De Paepe
Orphanet J Rare Dis. 2013; 8: 78. Published online 2013 May 21. doi: 10.1186/1750-1172-8-78
PMCID:
PMC3662563
AbstractArticlePDF–2.2M
13.
Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara-Pinton, Marina Colombi
Orphanet J Rare Dis. 2013; 8: 58. Published online 2013 Apr 12. doi: 10.1186/1750-1172-8-58
PMCID:
PMC3653713
AbstractArticlePDF–3.0M
14.
A single gene defect causing claustrophobia
A El-Kordi, A Kästner, S Grube, M Klugmann, M Begemann, S Sperling, K Hammerschmidt, C Hammer, B Stepniak, J Patzig, P de Monasterio-Schrader, N Strenzke, G Flügge, H B Werner, R Pawlak, K-A Nave, H Ehrenreich
Transl Psychiatry. 2013 Apr; 3(4): e254. Published online 2013 Apr 30. doi: 10.1038/tp.2013.28
PMCID:
PMC3641414
AbstractArticlePDF–1.0M
15.
Appreciating the broad clinical features of SMAD4 mutation carriers: a multi-center chart review
K.E. Wain, M.S. Ellingson, J. McDonald, A. Gammon, M. Roberts, P. Pichurin, I. Winship, D. Riegert-Johnson, J. N. Weitzel, N.M. Lindor
Genet Med. Author manuscript; available in PMC 2015 Feb 1.
Published in final edited form as: Genet Med. 2014 Aug; 16(8): 588–593. Published online 2014 Feb 13. doi: 10.1038/gim.2014.5
PMCID:
PMC4125531
AbstractArticlePDF–86K
16.
big bang gene modulates gut immune tolerance in Drosophila
François Bonnay, Eva Cohen-Berros, Martine Hoffmann, Sabrina Y. Kim, Gabrielle L. Boulianne, Jules A. Hoffmann, Nicolas Matt, Jean-Marc Reichhart
Proc Natl Acad Sci U S A. 2013 Feb 19; 110(8): 2957–2962. Published online 2013 Feb 1. doi: 10.1073/pnas.1221910110
PMCID:
PMC3581892
AbstractArticlePDF–845K
17.
Cyclic-AMP metabolism in synaptic growth, strength and precision: Neural and behavioral phenotype-specific counterbalancing effects between dnc PDE and rut AC mutations
Atsushi Ueda, Chun-Fang Wu
J Neurogenet. Author manuscript; available in PMC 2013 Mar 1.
Published in final edited form as: J Neurogenet. 2012 Mar; 26(1): 64–81. Published online 2012 Mar 1. doi: 10.3109/01677063.2011.652752
Correction in:
volume 26 on page 253
PMCID:
PMC3572794
AbstractArticlePDF–1.8M
18.
The complexity of elastic fiber biogenesis in the skin – a perspective to the clinical heterogeneity of cutis laxa
Jouni Uitto, Qiaoli Li, Zsolt Urban
Exp Dermatol. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Exp Dermatol. 2013 Feb; 22(2): 88–92. Published online 2012 Oct 23. doi: 10.1111/exd.12025
PMCID:
PMC3556375
AbstractArticlePDF–1.6M
19.
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
Daniela Melis, Gerarda Cappuccio, Virginia Maria Ginocchio, Giorgia Minopoli, Maurizia Valli, Massimiliano Corradi, Generoso Andria
Ital J Pediatr. 2012; 38: 65. Published online 2012 Nov 16. doi: 10.1186/1824-7288-38-65
PMCID:
PMC3545852
AbstractArticlePDF–770K
20.
Crystal structures of wild-type and mutated cyclophilin B that causes hyperelastosis cutis in the American quarter horse
Sergei P Boudko, Yoshihiro Ishikawa, Thomas F Lerch, Jay Nix, Michael S Chapman, Hans Peter Bächinger
BMC Res Notes. 2012; 5: 626. Published online 2012 Nov 8. doi: 10.1186/1756-0500-5-626
PMCID:
PMC3522003
AbstractArticlePDF–910K

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