Protein Truncation Abnormality

Faculty Opinions recommendation of A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.728024224.793536832 ◽

2017 ◽

Author(s):

David Teachey

Keyword(s):

Fas Ligand ◽

Death Receptor ◽

Severe Form ◽

Autoimmune Lymphoproliferative Syndrome ◽

Reverse Signaling ◽

Early Protein ◽

Lymphoproliferative Syndrome ◽

Protein Truncation

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Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β

Journal of Cellular Biochemistry ◽

10.1002/jcb.24189 ◽

2012 ◽

Vol 113 (10) ◽

pp. 3122-3132 ◽

Cited By ~ 9

Author(s):

Murali D. Bashyam ◽

Ajay K. Chaudhary ◽

Manjari Sinha ◽

H.A. Nagarajaram ◽

A. Radha Rama Devi ◽

...

Keyword(s):

Genetic Analysis ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Altered Protein ◽

Protein Truncation

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Plasmalemma Vesicle Associated Protein Truncation Causes Lethal Protein-Losing Enteropathy in Humans

Cellular and Molecular Gastroenterology and Hepatology ◽

10.1016/j.jcmgh.2015.06.003 ◽

2015 ◽

Vol 1 (4) ◽

pp. 348-349

Author(s):

Ryotaro Sakamori ◽

Lanjing Zhang ◽

Nan Gao

Keyword(s):

Protein Losing Enteropathy ◽

Protein Truncation

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Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP)

Human Mutation ◽

10.1002/humu.1195 ◽

2001 ◽

Vol 18 (4) ◽

pp. 337-344 ◽

Cited By ~ 13

Author(s):

J.P. Geisler ◽

M.A. Hatterman-Zogg ◽

J.A. Rathe ◽

T.A. Lallas ◽

P. Kirby ◽

...

Keyword(s):

Ovarian Cancer ◽

Mutation Detection ◽

Brca1 Mutation ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Polymorphism Analysis ◽

Protein Truncation Test ◽

Conformation Polymorphism Analysis ◽

Protein Truncation ◽

Conformation Polymorphism

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Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations

Human Genetics ◽

10.1007/s004390051109 ◽

1999 ◽

Vol 105 (4) ◽

pp. 327-332 ◽

Cited By ~ 3

Author(s):

M.J. Osborn ◽

M. Upadhyaya

Keyword(s):

Mutation Detection ◽

Mutational Analysis ◽

Protein Truncation Test ◽

Nf1 Gene ◽

Protein Truncation

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A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation

Human Mutation ◽

10.1002/(sici)1098-1004(200001)15:1<120::aid-humu31>3.0.co;2-e ◽

2000 ◽

Vol 15 (1) ◽

pp. 120-120 ◽

Cited By ~ 7

Author(s):

Jaana M. Hartikainen ◽

Mia M. Pirskanen ◽

Airi H. Arffman ◽

Ulla K. Ristonmaa ◽

Arto J. Mannermaa

Keyword(s):

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Site Mutation ◽

Aberrant Splicing ◽

Protein Truncation ◽

Brca1 Exon ◽

Splice Acceptor Site Mutation

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Mutational Analysis of the Neurofibromatosis Type 1 Gene in Childhood Myelodysplastic Syndromes Using a Protein Truncation Assay

Molecular Analysis of Cancer ◽

10.1385/1-59259-135-3:157 ◽

2003 ◽

pp. 157-170

Author(s):

Lucy Side

Keyword(s):

Myelodysplastic Syndromes ◽

Neurofibromatosis Type 1 ◽

Mutational Analysis ◽

Neurofibromatosis Type ◽

Protein Truncation

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Protein Truncation Test (PTT): Screeningverfahren zum Mutationsnachweis in der molekularen Diagnostik hereditärer kolorektaler Karzinome

Chirurgisches Forum ’95 für experimentelle und klinische Forschung ◽

10.1007/978-3-642-79621-0_116 ◽

1995 ◽

pp. 563-565

Author(s):

R. Buchcik ◽

D. Dupon ◽

J. Gebert ◽

M. Kadmon ◽

C. Graf ◽

...

Keyword(s):

Protein Truncation Test ◽

Protein Truncation

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Protein truncation assay

The Dictionary of Genomics, Transcriptomics and Proteomics ◽

10.1002/9783527678679.dg10213 ◽

2015 ◽

pp. 1-1

Keyword(s):

Protein Truncation

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A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations

Human Mutation ◽

10.1002/humu.10024 ◽

2002 ◽

Vol 19 (2) ◽

pp. 165-172 ◽

Cited By ~ 17

Author(s):

Sabine Kahmann ◽

Peter Herter ◽

Cornelius Kuhnen ◽

Klaus-Michael Müller ◽

Gert Muhr ◽

...

Keyword(s):

Sensitive Detection ◽

Protein Truncation Test ◽

Frameshift Mutations ◽

Protein Truncation

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