Splice, Insertion-Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India-Reference-Cited by-同舟云学术

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Splice, Insertion-Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India

Published:2014-01-19 Issue:3 Volume:115 Page:566-574
ISSN:0730-2312
Container-title:Journal of Cellular Biochemistry
language:en
Short-container-title:J. Cell. Biochem.

Author:

Bashyam Murali D.¹,Chaudhary Ajay K.¹,Kiran Manjari²,Nagarajaram Hampapathalu A.²,Devi Radha Rama³,Ranganath Prajnya³,Dalal Ashwin³,Bashyam Leena⁴,Gupta Neerja⁵,Kabra Madhulika⁵,Muranjan Mamta⁶,Puri Ratna D.⁷,Verma Ishwar C.⁷,Nampoothiri Sheela⁸,Kadandale Jayarama S.⁹

Affiliation:

1. Laboratory of Molecular Oncology; Centre for DNA Fingerprinting and Diagnostics; Hyderabad India

2. Laboratory of Computational Biology; Centre for DNA Fingerprinting and Diagnostics; Hyderabad India

3. Diagnostics Division; Centre for DNA Fingerprinting and Diagnostics; Hyderabad India

4. Genomics Facility; School of Life Sciences; University of Hyderabad; Hyderabad India

5. All India Institute of Medical Sciences; New Delhi India

6. Seth GS Medical College and King Edward Memorial Hospital; Mumbai India

7. Sir Ganga Ram Hospital; Delhi India

8. Amrita Institute of Medical Sciences & Research Center; Cochin India

9. Centre for Human Genetics; Bengaluru India

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jcb.24692/fullpdf

Reference33 articles.

1. Hansa: An automated method for discriminating disease and neutral human nsSNPs;Acharya;Hum Mutat,2012

2. Nonsense-mediated decay: Linking a basic cellular process to human disease;Bashyam;Expert Rev Mol Diagn,2009

3. Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene;Bashyam;J Hum Genet,2004

4. Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA;Bashyam;Mol Genet Metab,2010

5. A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India;Bashyam;Br J Dermatol,2012a

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1. Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing;Orphanet Journal of Rare Diseases;2023-05-26

2. The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China;Human Genomics;2023-04-25

3. Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India;American Journal of Medical Genetics Part A;2021-12-04

4. Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil;Molecular Genetics & Genomic Medicine;2018-05-10

5. The carrier rate of the phenylalanine hydoxylase gene (PAH) mutations p.Arg408Trp, pArg261Gln, and p.Arg261X in the populations of Eurasia;Russian Journal of Genetics;2017-08

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