Výsledky vyhledávání - "Clara Sze-man Tang"

Akademický článek

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease

Autor: Yanbing Wang, Timothy Shin Heng Mak, Saloni Dattani, Maria-Merce Garcia-Barcelo, Alexander Xi Fu, Kevin Y. Yip, Elly Sau-Wai Ngan, Paul Kwang-Hang Tam, Clara Sze-Man Tang, Pak Chung Sham

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)

Abstract Common variants in RET and NRG1 have been associated with Hirschsprung disease (HSCR), a congenital disorder characterised by incomplete innervation of distal gut, in East Asian (EA) populations. However, the allelic effects so far identifie

Externí odkaz: https://doaj.org/article/e0f03ea6c3674b9dae007715d6d2abea

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Akademický článek

Artificial intelligence-based approaches for the detection and prioritization of genomic mutations in congenital surgical diseases

Autor: Qiongfen Lin, Paul Kwong-Hang Tam, Clara Sze-Man Tang

Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)

Genetic mutations are critical factors leading to congenital surgical diseases and can be identified through genomic analysis. Early and accurate identification of genetic mutations underlying these conditions is vital for clinical diagnosis and effe

Externí odkaz: https://doaj.org/article/bc52d55116d34ee7bee9ea3621c26cd1

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Akademický článek

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

Autor: Wai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, Haibing Yue, Jacob Shujui Hsu, Patrick Ho-Yu Chung, John M. Nicholls, Fanny Yeung, Chun-Wai Davy Lee, Diem Ngoc Ngo, Pham Anh Hoa Nguyen, Hannah M. Mitchison, Dagan Jenkins, Christopher O'Callaghan, Maria-Mercè Garcia-Barceló, So-Lun Lee, Pak-Chung Sham, Vincent Chi-Hang Lui, Paul Kwong-Hang Tam

Publikováno v: EBioMedicine, Vol 71, Iss , Pp 103530- (2021)

Background: Biliary atresia (BA) is the most common obstructive cholangiopathy in neonates, often progressing to end-stage cirrhosis. BA pathogenesis is believed to be multifactorial, but the genetic contribution, especially for nonsyndromic BA (comm

Externí odkaz: https://doaj.org/article/de3d870458914c54bce3e247eeaeb86d

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Akademický článek

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications

Autor: Anwarul Karim, Clara Sze-Man Tang, Paul Kwong-Hang Tam

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live births. HSCR is characterized by the absence of enteric ganglia in the dist

Externí odkaz: https://doaj.org/article/7d1ef26a22a84d318e7d41f10bebeff1

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Akademický článek

Persistent barrage firing in cortical interneurons can be induced in vivo and may be important for the suppression of epileptiform activity

Autor: Norimitsu eSuzuki, Clara Sze-Man Tang, John M Bekkers

Publikováno v: Frontiers in Cellular Neuroscience, Vol 8 (2014)

Neural circuits are typically maintained in a state of dynamic equilibrium by balanced synaptic excitation and inhibition. However, brain regions that are particularly susceptible to epilepsy may have evolved additional specialized mechanisms for inh

Externí odkaz: https://doaj.org/article/9bad1e053a3a4aa6aca733c5a4e00c16

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Akademický článek

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.

Publikováno v: PLoS Genetics, Vol 8, Iss 5, p e1002687 (2012)

Hirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine. To assess the contribution of copy number variants (CNVs) to HSCR, we analysed the data generated from our previous genome-wide association s

Externí odkaz: https://doaj.org/article/e39739e82bd9432eb791bfa1368ea972

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Akademický článek

Fine mapping of the NRG1 Hirschsprung's disease locus.

Autor: Clara Sze-Man Tang, Wai-Kiu Tang, Man-Ting So, Xiao-Ping Miao, Brian Man-Chun Leung, Benjamin Hon-Kei Yip, Thomas Yuk-Yu Leon, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, Yan Chen, Ivy Hau-Yee Chan, Patrick Ho-Yu Chung, Xue-Lai Liu, Xuan-Zhao Wu, Kenneth Kak-Yuen Wong, Pak-Chung Sham, Stacey S Cherny, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló

Publikováno v: PLoS ONE, Vol 6, Iss 1, p e16181 (2011)

The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precur

Externí odkaz: https://doaj.org/article/39a9cfed9fb8422d9b3f7b1bde1ab4ba

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Akademický článek

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

Publikováno v: PLoS ONE, Vol 6, Iss 12, p e28986 (2011)

Rare (RVs) and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis). While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis;

Externí odkaz: https://doaj.org/article/2bc637cd25a94f7abcae0723d404adea

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