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Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation.

  • Authors : Chandrasekharan SV; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.; Sundaram S

Subjects: Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/*diagnosis ; Transcription Factors/Transcription Factors/Transcription Factors/*genetics ; Tripartite Motif Proteins/Tripartite Motif Proteins/Tripartite Motif Proteins/*genetics

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Sep; Vol. 31 (9), pp. 886-890. Date of Electronic Publication: 2021 Jun 11.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

PARK2 and PARK7 Gene Polymorphisms as Risk Factors Associated with Serum Element Concentrations and Clinical Symptoms of Parkinson's Disease.

  • Authors : Sanyal J; Department of Anthropology, University of Delhi, Delhi, 110007, India.; Anirudhan A

Subjects: Polymorphism, Single Nucleotide*; Parkinson Disease/Parkinson Disease/Parkinson Disease/*blood ; Parkinson Disease/Parkinson Disease/Parkinson Disease/*genetics

  • Source: Cellular and molecular neurobiology [Cell Mol Neurobiol] 2020 Apr; Vol. 40 (3), pp. 357-367. Date of Electronic Publication: 2019 Sep 11.Publisher: Springer Country of Publication: Netherlands NLM ID: 8200709 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Implication of alterations in Parkin gene among North Indian patients with colorectal cancer.

  • Authors : Tiwari RR; Department of Biosciences, Genome Biology Laboratory, Jamia Millia Islamia, New Delhi, India;School of Sciences, Indira Gandhi National Open University (IGNOU), New Delhi, India.

Subjects: Colorectal Neoplasms/Colorectal Neoplasms/Colorectal Neoplasms/*ethnology ; Colorectal Neoplasms/Colorectal Neoplasms/Colorectal Neoplasms/*genetics ; Loss of Heterozygosity/Loss of Heterozygosity/Loss of Heterozygosity/*genetics

  • Source: The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology [Turk J Gastroenterol] 2020 Mar; Vol. 31 (3), pp. 211-220.Publisher: Aves Country of Publication: Turkey NLM ID: 9515841 Publication Model: Print Cited Medium: Internet ISSN: 2148-5607 (Electronic)

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Academic Journal

Expanding the canvas of PRKN mutations in familial and early-onset Parkinson disease.

  • Authors : Pandey S; Department of Neurology, Govind Ballabh Pant Postgraduate institute of medical education and research, New Delhi, 110002, India. Electronic address: .; Tomar LR

Subjects: Parkinson Disease/Parkinson Disease/Parkinson Disease/*genetics ; Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/*genetics; Adolescent

  • Source: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2019 Sep; Vol. 66, pp. 216-219. Date of Electronic Publication: 2019 Aug 09.Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

  • Authors : Singh J; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India.; Mishra A

Subjects: High-Throughput Nucleotide Sequencing* ; Mutation*; Retinal Neoplasms/Retinal Neoplasms/Retinal Neoplasms/*genetics

  • Source: Molecular vision [Mol Vis] 2016 Aug 16; Vol. 22, pp. 1036-47. Date of Electronic Publication: 2016 Aug 16 (Print Publication: 2016).Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN:

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Academic Journal

Mapping of PARK2 and PACRG overlapping regulatory region reveals LD structure and functional variants in association with leprosy in unrelated indian population groups.

  • Authors : Chopra R; Shri Mata Vaishno Devi University, School of Biotechnology, Katra, Jammu & Kashmir, India.; Ali S

Subjects: Regulatory Sequences, Nucleic Acid*; Leprosy/Leprosy/Leprosy/*genetics ; Molecular Chaperones/Molecular Chaperones/Molecular Chaperones/*genetics

  • Source: PLoS genetics [PLoS Genet] 2013; Vol. 9 (7), pp. e1003578. Date of Electronic Publication: 2013 Jul 04.Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Linkage disequilibrium pattern and age-at-diagnosis are critical for replicating genetic associations across ethnic groups in leprosy.

  • Authors : Alter A; McGill Centre for the Study of Host Resistance, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Fava VM

Subjects: Ethnicity/Ethnicity/Ethnicity/*genetics ; Leprosy/Leprosy/Leprosy/*genetics ; Molecular Chaperones/Molecular Chaperones/Molecular Chaperones/*genetics

  • Source: Human genetics [Hum Genet] 2013 Jan; Vol. 132 (1), pp. 107-16. Date of Electronic Publication: 2012 Sep 29.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  53 results for ""UBIQUITIN ligases""