Results 31 to 40 of about 12,267 (205)

Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease [PDF]

, 2010
Receptor tyrosine kinase (RET) single nucleotide polymorphisms (SNPs) are associated with the Hirschsprung's disease (HSCR). We investigated whether the amount of RET expressed in the ganglionic gut of human was dependent on the genotype of three ...
Chen, Y, GarciaBarceló, M, Leon, TYY, Lui, VCH, Miao, X, Ngan, ESW, So, MT, Tam, PKH, Wong, KKY, Yuan, ZW   +9 more
core   +1 more source

Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis [PDF]

, 2011
Background Hirschsprung's disease (HSCR) is a classic oligogenic disorder. Except inactivating mutations of RET, some single nucleotide polymorphisms (SNPs) are identified to be associated with the risk of HSCR.
Jinfa Tou, Li Wang, Li Liu, Ying Wang, Rong Zhong, Shengyu Duan, Weiguang Liu, Qixing Xiong, Qinglong Gu, Hong Yang, Hui Li   +10 more
core   +2 more sources

Late Diagnosed Hirschsprung Disease: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2022
Hirschsprung Disease (HD) is mainly a diagnosis of the neonatal period. It is mostly suspected within the first few days of life, the classical telltale sign is an infant not passing meconium.
Shrayash Khare, Omaira Tejada, Magda Mendez   +2 more
doaj   +1 more source

Transcriptional repressor ZEB2 promotes terminal differentiation of CD8⁺ effector and memory T cell populations during infection [PDF]

, 2015
ZEB2 is a multi-zinc-finger transcription factor known to play a significant role in early neurogenesis and in epithelial-mesenchymal transition-dependent tumor metastasis.
Agata Stryjewska, Alexander Weidemann, Ananda W. Goldrath, Best, Bingfei Yu, Brabletz, Cannarile, Christiane Zweier, Conidi, Danny Huylebroeck, Engel, Eve Seuntjens, Garavelli, Gattinoni, Goldrath, Goossens, Goossens, Grégoire, Gründemann, Hand, Haring, Harney, Harney, Harty, Higashi, Higashi, Hikono, Hikono, Hisato Kondoh, J. Adam Best, Jessica V. Nguyen, Jody Haigh, Joshi, Kaech, Kaech, Kaech, Kaech, Kallies, Knell, Kyla D. Omilusik, Larabee, Lin, Luca Gattinoni, Lynne M. Bird, Massari, Masson, Mowat, Murre, Olson, Postigo, Postigo, Rahul Roychoudhuri, Remacle, Rice, Rubinstein, Sarkar, Sawada, Sekido, Seuntjens, Steven Goossens, Takemoto, Van de Putte, van den Berghe, van Grunsven, Verschueren, Verstappen, Voehringer, Williams, Wirth, Yang, Yasui, Yujiro Higashi, Zweier   +72 more
core   +3 more sources

Hirschsprung disease in an adult with intestinal malrotation and volvulus: an exceptional association

Journal of Medical Case Reports, 2019
Background Hirschsprung disease is a neonatal discovery in almost all cases, and the association of Hirschsprung disease in adults with symptomatic intestinal malrotation is unusual.
Elise Lupon, François Labbe, Emile Nini, Sixte Sondji   +3 more
doaj   +1 more source

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
core   +2 more sources

Skip segment Hirschsprung disease and Waardenburg syndrome

Journal of Pediatric Surgery Case Reports, 2015
Skip segment Hirschsprung disease describes a segment of ganglionated bowel between two segments of aganglionated bowel. It is a rare phenomenon that is difficult to diagnose.
Erica R. Gross, Gabrielle C. Geddes, Julie A. McCarrier, Jason A. Jarzembowski, Marjorie J. Arca   +4 more
doaj   +1 more source

Wnt Signaling in Neural Crest Ontogenesis and Oncogenesis. [PDF]

, 2019
Neural crest (NC) cells are a temporary population of multipotent stem cells that generate a diverse array of cell types, including craniofacial bone and cartilage, smooth muscle cells, melanocytes, and peripheral neurons and glia during embryonic ...
Hao, Hongyan, Ji, Yu, McMahon, Moira, Reynolds, Kurt, Zhou, Chengji J   +4 more
core   +2 more sources

Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation

Nature Communications, 2023
Hirschsprung disease is characterized by the absence of enteric neurons caused by the defects of enteric neural crest cells, leading to intestinal obstruction.
Zhixin Li, Kathy Nga-Chu Lui, Sin-Ting Lau, Frank Pui-Ling Lai, Peng Li, Patrick Ho-Yu Chung, Kenneth Kak-Yuen Wong, Paul Kwong-Hing Tam, Maria-Mercedes Garica-Barcelo, Chi-Chung Hui, Pak Chung Sham, Elly Sau-Wai Ngan   +11 more
doaj   +1 more source

Current concepts of enzyme histochemistry in modern pathology [PDF]

, 2008
Enzyme histochemistry serves as a link between biochemistry and morphology. It is based on metabolization of a substrate provided to a tissue enzyme in its orthotopic localization. Visualization is accomplished with an insoluble dye product.
Bruder, E., Meier-Ruge, W. A.
core   +1 more source