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Academic Journal

Development of a telomere vector-based approach to overcome limitations caused by lethal phenotypes in the study of essential genes in Magnaporthe oryzae.

  • Authors : Wirtz L; Department of Molecular Plant Physiology, RWTH Aachen University, Aachen, Germany.; Casanova F

Subjects: Telomere*/Telomere*/Telomere*/genetics ; Phenotype* ; Genes, Essential* Pyricularia oryzae

  • Source: Molecular plant pathology [Mol Plant Pathol] 2024 May; Vol. 25 (5), pp. e13460.Publisher: Blackwell Science in collaboration with the British Society of Plant Pathology Country of Publication: England NLM ID: 100954969 Publication Model:

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Academic Journal

Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4 -/- mouse model of PFIC3.

  • Authors : Wei G; Division of Gastroenterology and Hepatology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA; Department of Radiation Oncology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

Subjects: Gene Deletion* ; Phenotype*; ATP Binding Cassette Transporter, Subfamily B/ATP Binding Cassette Transporter, Subfamily B/ATP Binding Cassette Transporter, Subfamily B/*deficiency Cholestasis, progressive familial intrahepatic 3

  • Source: Journal of hepatology [J Hepatol] 2021 Jun; Vol. 74 (6), pp. 1416-1428. Date of Electronic Publication: 2020 Dec 17.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8503886 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

6S-2 RNA deletion in the undomesticated B. subtilis strain NCIB 3610 causes a biofilm derepression phenotype.

  • Authors : Thüring M; Institute of Pharmaceutical Chemistry, Philipps-University Marburg , Marburg, Germany.; Ganapathy S

Subjects: Gene Deletion* ; Phenotype*; Bacillus subtilis/Bacillus subtilis/Bacillus subtilis/*genetics

  • Source: RNA biology [RNA Biol] 2021 Jan; Vol. 18 (1), pp. 79-92. Date of Electronic Publication: 2020 Aug 30.Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101235328 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Detailed genetic and functional analysis of the hDMDdel52/mdx mouse model.

  • Authors : Yavas A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Weij R

Subjects: Disease Models, Animal* ; Gene Deletion* ; Phenotype*

  • Source: PloS one [PLoS One] 2020 Dec 23; Vol. 15 (12), pp. e0244215. Date of Electronic Publication: 2020 Dec 23 (Print Publication: 2020).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.

  • Authors : Geerts-Haages A; Intellectual Disability Medicine, Department of General Practice, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Bossuyt SNV

Subjects: Gene Deletion* ; Phenotype*; Angelman Syndrome/Angelman Syndrome/Angelman Syndrome/*genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Nov; Vol. 8 (11), pp. e1481. Date of Electronic Publication: 2020 Sep 05.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Deletion of bglC triggers a genetic compensation response by awakening the expression of alternative beta-glucosidase.

  • Authors : Deflandre B; InBioS - Center for Protein Engineering, University of Liège, Institut de Chimie, Liège B-4000, Belgium.; Thiébaut N

Subjects: Gene Deletion* ; Gene Expression Regulation, Bacterial* ; Gene Expression Regulation, Enzymologic*

  • Source: Biochimica et biophysica acta. Gene regulatory mechanisms [Biochim Biophys Acta Gene Regul Mech] 2020 Oct; Vol. 1863 (10), Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731723 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Schimke XLID syndrome results from a deletion in BCAP31.

  • Authors : Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Collins DL

Subjects: Gene Deletion* ; Mutation* ; Phenotype*Schimke immunoosseous dysplasia

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Sep; Vol. 182 (9), pp. 2168-2174. Date of Electronic Publication: 2020 Jul 18.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic and phenotypic analysis of a rare asymptomatic case of a homozygous Chinese G γ + ( A γδβ) 0 -thalassemia deletion in a Chinese family.

  • Authors : Du L; Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China

Subjects: Gene Deletion* ; Homozygote* ; Phenotype*

  • Source: Clinical biochemistry [Clin Biochem] 2020 Feb; Vol. 76, pp. 11-16. Date of Electronic Publication: 2019 Nov 22.Publisher: Elsevier Science Country of Publication: United States NLM ID: 0133660 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Complexin I knockout rats exhibit a complex neurobehavioral phenotype including profound ataxia and marked deficits in lifespan.

  • Authors : Xu Y; Institute of Neurological Disease, Department of Anesthesiology, Translational Neuroscience Center, West China Hospital, Sichuan University & The Research Units of West China, Chinese Academy of Medical Sciences, Chengdu, 610041, China.; Zhao XM

Subjects: Gene Deletion* ; Phenotype*; Adaptor Proteins, Vesicular Transport/Adaptor Proteins, Vesicular Transport/Adaptor Proteins, Vesicular Transport/*metabolism

  • Source: Pflugers Archiv : European journal of physiology [Pflugers Arch] 2020 Jan; Vol. 472 (1), pp. 117-133. Date of Electronic Publication: 2019 Dec 24.Publisher: Springer Country of Publication: Germany NLM ID: 0154720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2013

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Academic Journal

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

  • Authors : Pillai NR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.

Subjects: Gene Deletion* ; Loss of Function Mutation* ; Phenotype*

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Dec; Vol. 179 (12), pp. 2459-2468. Date of Electronic Publication: 2019 Sep 13.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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