مكتبة

Item request has been placed!

Item request cannot be made.

Processing Request

Academic Journal

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.

Authors : Santos-Gómez A; Neurophysiology Laboratory, Department of Biomedicine, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.

Subjects: Mutation*; Brain Diseases/Brain Diseases/Brain Diseases/*pathology ; Nerve Tissue Proteins/Nerve Tissue Proteins/Nerve Tissue Proteins/*chemistry

Source: International journal of molecular sciences [Int J Mol Sci] 2021 Nov 23; Vol. 22 (23). Date of Electronic Publication: 2021 Nov 23.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Cancer-associated mutations in VAV1 trigger variegated signaling outputs and T-cell lymphomagenesis.

Authors : Robles-Valero J; Molecular Mechanisms of Cancer Program, Centro de Investigación del Cáncer, CSIC-University of Salamanca, Salamanca, Spain.; Instituto de Biología Molecular y Celular del Cáncer, CSIC-University of Salamanca, Salamanca, Spain.

Subjects: Mutation*; CD4-Positive T-Lymphocytes/CD4-Positive T-Lymphocytes/CD4-Positive T-Lymphocytes/*pathology ; Lymphoma, T-Cell, Peripheral/Lymphoma, T-Cell, Peripheral/Lymphoma, T-Cell, Peripheral/*genetics

Source: The EMBO journal [EMBO J] 2021 Nov 15; Vol. 40 (22), pp. e108125. Date of Electronic Publication: 2021 Oct 07.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3.

Authors : Diakatou M; INM, University of Montpellier, Inserm, 34091 Montpellier, France.; Dubois G

Subjects: Clustered Regularly Interspaced Short Palindromic Repeats/Clustered Regularly Interspaced Short Palindromic Repeats/Clustered Regularly Interspaced Short Palindromic Repeats/*genetics ; Genes, Dominant/Genes, Dominant/Genes, Dominant/*genetics ; Mutation/Mutation/Mutation/*genetics

Source: International journal of molecular sciences [Int J Mol Sci] 2021 Mar 05; Vol. 22 (5). Date of Electronic Publication: 2021 Mar 05.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.

Authors : Husein DM; Department of Biochemistry, University of Veterinary Medicine Hannover, Bünteweg 17, 30559 Hannover, Germany.; Rizk S

Subjects: Mutation* ; Protein Transport*; Carbohydrate Metabolism, Inborn Errors/Carbohydrate Metabolism, Inborn Errors/Carbohydrate Metabolism, Inborn Errors/*genetics Sucrase-isomaltase deficiency, congenital

Source: Nutrients [Nutrients] 2020 Dec 22; Vol. 13 (1). Date of Electronic Publication: 2020 Dec 22.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.

Authors : Koehler K; Medizinische Fakultät Carl Gustav Carus, Children's Hospital, Technische Universität Dresden, Dresden, Germany.; Hmida D

Subjects: Homozygote*; Esophageal Achalasia/Esophageal Achalasia/Esophageal Achalasia/*diagnosis ; Esophageal Achalasia/Esophageal Achalasia/Esophageal Achalasia/*genetics Achalasia, familial esophageal

Source: Neurogastroenterology and motility [Neurogastroenterol Motil] 2020 Dec; Vol. 32 (12), pp. e13923. Date of Electronic Publication: 2020 Jun 22.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 9432572 Publication Model: Print-Electronic Cited Medium: Internet

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation.

Authors : Prosperi F; Biogem S.c.a.r.l., Istituto Di Ricerche Genetiche 'Gaetano Salvatore', Ariano Irpino, Italy.; Suzumoto Y

Subjects: Diabetes Insipidus, Nephrogenic/Diabetes Insipidus, Nephrogenic/Diabetes Insipidus, Nephrogenic/*genetics ; Mutation/Mutation/Mutation/*drug effects ; Mutation/Mutation/Mutation/*genetics

Source: Scientific reports [Sci Rep] 2020 Oct 02; Vol. 10 (1), pp. 16383. Date of Electronic Publication: 2020 Oct 02.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Disease Mutation Study Identifies Critical Residues for Phosphatidylserine Flippase ATP11A.

Authors : Sun K; Department of Laboratory Medicine, Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China 610072.; Tian W

Subjects: ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/*genetics ; ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/*metabolism ; Mutation/Mutation/Mutation/*genetics

Source: BioMed research international [Biomed Res Int] 2020 Jun 02; Vol. 2020, pp. 7342817. Date of Electronic Publication: 2020 Jun 02 (Print Publication: 2020).Publisher: Wiley Country of Publication: United States NLM ID: 101600173 Publication Model: eCollection Cited Medium: Internet ISSN: 2314-6141

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Mutation of Hydrophobic Residues in the C-Terminal Domain of the Marburg Virus Matrix Protein VP40 Disrupts Trafficking to the Plasma Membrane.

Authors : Wijesinghe KJ; Department of Chemistry and Biochemistry, University of Notre Dame, Notre Dame, IN 46556, USA.; McVeigh L

Subjects: Mutation* ; Protein Interaction Domains and Motifs*; Cell Membrane/Cell Membrane/Cell Membrane/*metabolism

Source: Viruses [Viruses] 2020 Apr 24; Vol. 12 (4). Date of Electronic Publication: 2020 Apr 24.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101509722 Publication Model: Electronic Cited Medium: Internet ISSN: 1999-4915

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

Authors : Morín M; Servicio de Genética, Ramón y Cajal Institute of Health Research (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER), 28034, Madrid, Spain.; Borreguero L

Subjects: Mutation*; Hearing Loss, Sensorineural/Hearing Loss, Sensorineural/Hearing Loss, Sensorineural/*genetics ; Trans-Activators/Trans-Activators/Trans-Activators/*geneticsDeafness, Autosomal Dominant 10

Source: Scientific reports [Sci Rep] 2020 Apr 10; Vol. 10 (1), pp. 6213. Date of Electronic Publication: 2020 Apr 10.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Elucidation of the Molecular Characteristics of Wild-Type and ALS-Linked Mutant SOD1 Using the NanoLuc Complementation Reporter System.

Authors : Oh-Hashi K; United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, 1-1 Yanagido, Gifu, 501-1193, Japan. .; Graduate School of Natural Science and Technology, Gifu University, 1-1 Yanagido, Gifu, 501-1193, Japan. .

Subjects: Genes, Reporter* ; Mutation*; Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*enzymology

Source: Applied biochemistry and biotechnology [Appl Biochem Biotechnol] 2020 Feb; Vol. 190 (2), pp. 674-685. Date of Electronic Publication: 2019 Aug 17.Publisher: Humana Press Country of Publication: United States NLM ID: 8208561 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

نتائج البحث

فلترة النتائج

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.

Cancer-associated mutations in VAV1 trigger variegated signaling outputs and T-cell lymphomagenesis.

Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3.

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.

Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.

Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation.

Disease Mutation Study Identifies Critical Residues for Phosphatidylserine Flippase ATP11A.

Mutation of Hydrophobic Residues in the C-Terminal Domain of the Marburg Virus Matrix Protein VP40 Disrupts Trafficking to the Plasma Membrane.

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

Elucidation of the Molecular Characteristics of Wild-Type and ALS-Linked Mutant SOD1 Using the NanoLuc Complementation Reporter System.

اتصل بنا

اتبع