Literature DB >> 21273699

Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.

Neeraj Kumar1, Krishna K Taneja, Atul Kumar, Deepti Nayar, Bhupesh Taneja, Satindra Aneja, Madhuri Behari, Veena Kalra, Surendra K Bansal.   

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Year:  2010        PMID： 21273699     DOI： 10.1007/s12041-010-0067-1

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  18 in total

Review 1.  X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

Authors:  B M van Geel; J Assies; R J Wanders; P G Barth
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-07       Impact factor: 10.154

2.  COBALT: constraint-based alignment tool for multiple protein sequences.

Authors:  Jason S Papadopoulos; Richa Agarwala
Journal:  Bioinformatics       Date:  2007-03-01       Impact factor: 6.937

3.  Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.

Authors:  Neeraj Kumar; K K Taneja; Veena Kalra; Madhuri Behari; S Aneja; S K Bansal
Journal:  Hum Genet       Date:  2009-08       Impact factor: 4.132

4.  De novo ABCD1 gene mutation in an Indian patient with adrenoleukodystrophy.

Authors:  Neeraj Kumar; Pallavi Shukla; Krishna K Taneja; Veena Kalra; Surendra K Bansal
Journal:  Pediatr Neurol       Date:  2008-10       Impact factor: 3.372

5.  Three novel variants in X-linked adrenoleukodystrophy.

Authors:  Pallavi Shukla; Neerja Gupta; Madhulika Kabra; Manju Ghosh; Raju Sharma; Arun K Gupta; Sheffali Gulati; Veena Kalra
Journal:  J Child Neurol       Date:  2009-04-30       Impact factor: 1.987

6.  Crystal structure of the ATP-binding subunit of an ABC transporter.

Authors:  L W Hung; I X Wang; K Nikaido; P Q Liu; G F Ames; S H Kim
Journal:  Nature       Date:  1998-12-17       Impact factor: 49.962

7.  Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

Authors:  S Fuchs; C O Sarde; H Wedemann; E Schwinger; J L Mandel; A Gal
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

8.  Mutational analysis of patients with X-linked adrenoleukodystrophy.

Authors:  F Kok; S Neumann; C O Sarde; S Zheng; K H Wu; H M Wei; J Bergin; P A Watkins; S Gould; G Sack
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

9.  Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.

Authors:  J Mosser; A M Douar; C O Sarde; P Kioschis; R Feil; H Moser; A M Poustka; J L Mandel; P Aubourg
Journal:  Nature       Date:  1993-02-25       Impact factor: 49.962

Review 10.  ABC transporters: the power to change.

Authors:  Douglas C Rees; Eric Johnson; Oded Lewinson
Journal:  Nat Rev Mol Cell Biol       Date:  2009-03       Impact factor: 94.444
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  1 in total

1.  Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

Authors:  Neeraj Kumar; Krishna Kant Taneja; Veena Kalra; Madhuri Behari; Satinder Aneja; Surendra Kumar Bansal
Journal:  PLoS One       Date:  2011-09-22       Impact factor: 3.240
  1 in total

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