Results 91 to 100 of about 2,246,280 (273)

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

Ciliopathy gene variants and perioperative respiratory outcomes in infants with heterotaxy syndrome and congenital heart disease

Translational Science of Rare Diseases, 2023
BACKGROUND: Ciliary dysfunction underlies the pathogenesis of both heterotaxy syndrome and primary ciliary dyskinesia (PCD), often with overlapping genetic variants.
Jonathan Marquez, Lauren N. Carlozzi, Danny E. Miller, Matthew D. Files, B. Kinghorn, E. Sagiv   +5 more
semanticscholar   +1 more source

Vascular Reconstruction in Extremity Soft Tissue Sarcomas: A Systematic Review and Single‐Arm Meta‐Analysis

Journal of Surgical Oncology, EarlyView.
ABSTRACT Introduction The management of extremity soft tissue sarcomas (STS) involving major vessels presents unique challenges, historically leading to amputation. Advances in vascular reconstruction have enabled limb‐sparing surgery (LSS), but outcomes and perioperative risks remain uncertain.
Lucas Monteiro Delgado, Bernardo Fontel Pompeu, Vinícius dos Santos Macedo, Gabriel Henrique Acedo Martins, Eric Pasqualotto, Matheus Reginato Araujo, Julia Hoici Brunini, Victor Andrade Nunes, Cláudia Theis, Samuel Aguiar Junior   +9 more
wiley   +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  

Overlapping and distinct expression domains of Zic2 and Zic3 during mouse gastrulation

, 2016
The Zic genes are the vertebrate homologues of the Drosophila Odd-paired gene. Mutations in two of these genes are associated with human congenital genetic disorders.
Arkell, Ruth, Bogani, Debora, Davies, Jennifer, Elms, Paul, Hacker, Terry, Scurry, Andrew, Willoughby, Catherine   +6 more
core   +1 more source

Rare variant of heterotaxy syndrome in childhood in pulmonology clinic

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2023
Heterotaxy syndrome is a congenital malformation in which the internal organs of the chest and abdominal cavity have an abnormal location. People suffering from this syndrome have multiple complex defects in the heart, blood vessels, spleen, liver, lungs
Y. Mizernitskiy, A. Novak, I. Zorina, S. Ryabova, I. Kovalev, E. G. Verchenko, V. Bereznitskiy, L. Melikyan, L. Egorov   +8 more
semanticscholar   +1 more source

Human Breast Milk‐Derived Exosomal FP671120.4 Inhibits Macrophage M1 Polarization via Modulating the ELAVL1/Nrf2 Axis in Sepsis‐Associated Liver Injury

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Sepsis‐associated liver injury (SALI) plays a major role in aggravating disease progression and worsening prognosis in patients with sepsis. Macrophage polarization is a key factor in the modulation of SALI progression. Recent studies have shown that human breast milk‐derived exosomes (HBM‐Exos) regulate processes involved in macrophage ...
Zhao‐Bin Yang, Yi‐Bin Gao, Xiao‐Mei Cheng, Lu‐Zhen Qiu   +3 more
wiley   +1 more source

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia [PDF]

, 2016
Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring expensive equipment and experienced PCD scientists. This study aims to develop a
Behan, Laura, Carroll, Mary, Dimitrov, Borislav D., Evans, Hazel J., Goutaki, Myrofora, Harris, Amanda, Hogg, Claire, Kuehni, Claudia E., Lucas, Jane S., Packham, Samantha, Walker, Woolf T.   +10 more
core   +1 more source

Heterotaxy Syndrome and Intestinal Rotation Abnormalities [PDF]

Pediatrics, 2018
BACKGROUND: Infants with heterotaxy syndrome (HS) have abnormal lateralization of organs along the right-left body axis. Intestinal rotation abnormalities (IRAs) are a potential source of morbidity and mortality. For this study, our objective was to prospectively observe a cohort of infants with HS and determine the
Lindsay M, Ryerson, Scott, Pharis, Charissa, Pockett, Reeni, Soni, Deborah, Fruitman, Kristine J, Guleserian, Melissa, Nater, Stephen C, Raynor, Andrew S, Mackie, Bryan, Dicken   +9 more
openaire   +2 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source