Congenital Pouch Colon

Saxena, Amulya K.; Mathur, Praveen

doi:10.1007/978-3-642-38482-0_77-1

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2018

2023

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Cited by 2 publications

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“…Congenital pouch colon is reported exclusively from northwestern India with 5-18% CPC cases known for total anorectal malformations [2]. Since 2005, several efforts have been made to understand the clinical genetic makeup of CPC, but no attempt has been made to study the genes responsible for the disease.…”

Section: Introductionmentioning

confidence: 99%

lnc-EPB41-Protein Interactions Associated with Congenital Pouch Colon

Gupta¹,

Gupta²,

Tiwari³

et al. 2018

Preprint

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Congenital Pouch Colon (CPC) is a rare anorectal anomaly common to northwestern India, specifically Rajasthan. Despite efforts to understand the clinical genetic makeup of CPC, no attempt on identifying non-coding RNAs was done. We have earlier reported CPC's rare variants from whole exome sequencing (WES) across 18 affected samples in a total of 64 subjects. A Smith-Waterman algorithm was used to infer a couple of lncRNAs from WES samples of CPC with predictions from the Noncode database. Further screening and quantification using polymerase chain reaction (PCR), we ascertained interactions using Micro Scale Thermophoresis (MST). We report the role of lnc-EPB41-1-1 shown to be promiscuously interacting with KIF13A substantiating their role in regulation.

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Section: Introductionmentioning

confidence: 99%