Literature DB >> 11370628

Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.

A Kadakol, B S Sappal, S S Ghosh, M Lowenheim, A Chowdhury, S Chowdhury, A Santra, I M Arias, J R Chowdhury, N R Chowdhury.   

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Year:  2001        PMID： 11370628      PMCID： PMC1734859          DOI： 10.1136/jmg.38.4.244

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  Gilbert's syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene.

Authors:  Shabana Farheen; Sanghamitra Sengupta; Amal Santra; Suparna Pal; Gopal Krishna Dhali; Meenakshi Chakravorty; Partha P Majumder; Abhijit Chowdhury
Journal:  World J Gastroenterol       Date:  2006-04-14       Impact factor: 5.742

2.  Risk factors for severe hyperbilirubinemia among infants with borderline bilirubin levels: a nested case-control study.

Authors:  Michael W Kuzniewicz; Gabriel J Escobar; Soora Wi; Petra Liljestrand; Charles McCulloch; Thomas B Newman
Journal:  J Pediatr       Date:  2008-03-21       Impact factor: 4.406

3.  Role of cysteine residues in the function of human UDP glucuronosyltransferase isoform 1A1 (UGT1A1).

Authors:  Siddhartha S Ghosh; Yang Lu; Sung W Lee; Xia Wang; Chandan Guha; Jayanta Roy-Chowdhury; Namita Roy-Chowdhury
Journal:  Biochem J       Date:  2005-12-15       Impact factor: 3.857

Review 4.  Inherited disorders of bilirubin clearance.

Authors:  Naureen Memon; Barry I Weinberger; Thomas Hegyi; Lauren M Aleksunes
Journal:  Pediatr Res       Date:  2015-11-23       Impact factor: 3.756

5.  Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia.

Authors:  Forough Saki; Fariba Hemmati; Mahmoud Haghighat
Journal:  Ann Saudi Med       Date:  2011 Mar-Apr       Impact factor: 1.526

6.  Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.

Authors:  Neha Gupta; Mercilena Benjamin; Anjana Kar; Sachin Dev Munjal; Aditya N Sarangi; Ashwin Dalal; Rakesh Aggarwal
Journal:  PLoS One       Date:  2015-12-30       Impact factor: 3.240

7.  Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.

Authors:  Linda Gailite; Dmitrijs Rots; Ieva Pukite; Gunta Cernevska; Madara Kreile
Journal:  BMC Pediatr       Date:  2018-10-03       Impact factor: 2.125

8.  UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays.

Authors:  Linda Gailite; Alberto Valenzuela-Palomo; Lara Sanoguera-Miralles; Dmitrijs Rots; Madara Kreile; Eladio A Velasco
Journal:  Front Genet       Date:  2020-03-06       Impact factor: 4.599
  8 in total

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