Results 1 to 10 of about 8,530 (370)

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Genome Medicine
NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans.
Z. Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski, E. Jones, S. Jhangiani, X. Wehrens, Pengfei Liu, W. Bi, E. Boerwinkle, J. Posey, D. Muzny, Richard A Gibbs, J. Lupski, Z. Coban-Akdemir, S. Morris   +17 more
semanticscholar   +1 more source

From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders [PDF]

, 2009
BACKGROUND: The ZIC3 gene functions as a transcription factor in early stages of left-right body axis formation. Mutations in ZIC3 gene cause a variety of clinical manifestations including isolated congenital heart disease (CHD), heterotaxy & other ...
Chitayat, D, Chung, BHY, Keating, S, Shaffer, L   +3 more
core  

Extrahepatic Anomalies in Infants With Biliary Atresia: Results of a Large Prospective North American Multicenter Study [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/100275/1/hep26512 ...
Bezerra, Jorge A, Bove, Kevin, Haber, Barbara H, Karpen, Saul J, Kerkar, Nanda, Mack, Cara L, Magee, John C, Molleston, Jean P, Moore, Jeffrey, Murray, Karen F, Network, Childhood Liver Disease Research and Education, Ng, Vicky L, Romero, René, Rosenthal, Philip, Schwarz, Kathleen B, Shneider, Benjamin L, Sokol, Ronald J, Turmelle, Yumirle P, Wang, Kasper S, Whitington, Peter F   +19 more
core   +2 more sources

Heterotaxy Syndrome Diagnosed in an Adult

Ochsner Journal
Background: Heterotaxy syndrome, a condition in which the internal organs are abnormally arranged in the thorax or abdomen, is generally diagnosed early in life, often during the neonatal period. Case Report: We present the case of a 42-year-old male who
Gizem Guney, Furkan Aydinli, Selime Aksit, Kenan Kadirli, Musa Salmanoğlu   +4 more
semanticscholar   +1 more source

Heterotaxy syndrome – An unusual cause for bowel obstruction in an adult

South African Journal of Radiology
Heterotaxy syndrome, also known as situs ambiguous, is a spectrum of pathology due to loss of the normal right-to-left asymmetry of the thoraco-abdominal organs.
Radhiya Minty, Tanaka Gomba, Rabia Abid
doaj   +1 more source

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton [PDF]

, 2013
Planar cell polarity (PCP) regulates cell alignment required for collective cell movement during embryonic development. This requires PCP/PCP effector proteins, some of which also play essential roles in ciliogenesis, highlighting the long-standing ...
Adam V. Kwiatkowski, AJ Ross, B Schermer, Bishwanath Chatterjee, C Cui, C Jones, C Jones, C Stuckenholz, CB Kimmel, CD Nobes, Cecilia W. Lo, Chandrakala Puligilla, Cheng Cui, CJ Haycraft, CU Stirnimann, CW Sipe, D Huangfu, D Huangfu, D Yelon, Deanne Francis, E Joo, EK Vladar, Elias T. Spiliotis, F Hildebrandt, GJ Pazour, Gregory J. Pazour, Hisato Yagi, HM Phillips, HM Phillips, I Drummond, J Magdalena, J Wang, J Wang, JB Wallingford, JB Wallingford, JL Badano, Jovenal T. San Agustin, K Schmidt, K Takemaru, KC Corbit, KC Corbit, Lisa M. Swanhart, M Castori, M Fliegauf, M Kelly, M Kinoshita, M Montcouquiol, M Simons, Matthew P. Scott, Matthew W. Kelley, Neil A. Hukriede, Q Hu, Q Yu, Qing Yu, R Rohatgi, RA Meseroll, Richard J. Francis, RJ Francis, Rocky Tuan, S Collier, S Maretto, S Saburi, SD Weatherbee, SK Kim, Subramaniam Sanker, T Caspary, T Kudoh, Tania Chatterjee, Terry Tansey, Thomas P. Lozito, TJ Park, X Wen, Xiaoqin Liu, Y Wang, Zhen Zhang   +74 more
core   +4 more sources

Heterotaxy Syndrome with Polysplenia [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

Creating a Fontan fenestration in a child with dextrocardia and interrupted inferior vena cava [PDF]

, 2016
Plastic bronchitis is a rare life-threatening complication of the Fontan operation. Transcatheter Fontan fenestration can ameliorate symptoms by decompressing elevated venous pressures.
Breinholt, John P., Charlagorla, Pradeepkumar   +1 more
core   +3 more sources

A 0.5-Mbp deletion on bovine chromosome 23 is a strong candidate for stillbirth in Nordic Red cattle [PDF]

, 2016
201
de Koning, Dirk-Jan, Guldbrandtsen, Bernt, Iso-Touru, Terhi, Sahana, Goutam, Sander Nielsen, Ulrik, Sandø Lund, Mogens, Vilkki, Johanna, Wu, Xiaoping   +7 more
core   +8 more sources

The inferior caval vein draining into the left atrial cavity : a rare case [PDF]

, 2011
The inferior vena cava (IVC) draining into the left atrium (LA) is exceedingly rare in the setting of the usual atrial arrangement (situs solitus).
McCarthy, Karen, Shiina, Y., Slavik, S., Uemura, H., Yen Ho, S.   +4 more
core