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Academic Journal

Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene.

  • Authors : Wu F; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/pathology ; Neurofibromatosis 1*/Neurofibromatosis 1*/Neurofibromatosis 1*/genetics

  • Source: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103444. Date of Electronic Publication: 2024 May 15.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing.

  • Authors : Liu HB; Department of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Dong T

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Gene Editing*/Gene Editing*/Gene Editing*/methods ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/genetics Spinocerebellar Ataxia 12

  • Source: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103441. Date of Electronic Publication: 2024 May 10.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

Generation of KCNH2 heterozygous knockout induced pluripotent stem cell (iPSC) line (Long and Short QT Syndrome).

  • Authors : Wang B; Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese Ministry of Health and Chinese Academy of Medical Sciences, The State and Shandong Province Joint Key Laboratory of Translational Cardiovascular Medicine, Qilu Hospital of Shandong University, Jinan 100034, PR China; Department of Cardiology, Qilu Hospital of Shandong University, Jinan 100034, PR China.

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; ERG1 Potassium Channel*/ERG1 Potassium Channel*/ERG1 Potassium Channel*/genetics ; ERG1 Potassium Channel*/ERG1 Potassium Channel*/ERG1 Potassium Channel*/metabolism Short Qt Syndrome

  • Source: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103400. Date of Electronic Publication: 2024 Mar 26.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

Efficacy of Inclisiran in Patients Having Familial Hypercholesterolemia: Heterozygous Compared to Homozygous Trait, a Systematic Review and Meta-analysis.

  • Authors : Rai R; From the Department of Medicine and Surgery, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.; Devi P

Subjects: Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/blood ; Heterozygote*

  • Source: Critical pathways in cardiology [Crit Pathw Cardiol] 2024 Jun 01; Vol. 23 (2), pp. 73-80. Date of Electronic Publication: 2024 Mar 05.Publisher: Lippincott, Williams & Wilkins Country of Publication: United States NLM ID: 101165286 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Establishment of a human induced pluripotent stem cell line（SDQLCHi059-A）from a patient with congenital disorder of glycosylation carrying heterozygous mutation in MPI gene.

  • Authors : Wang B; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, 250022, China.

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/pathology ; Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/Congenital Disorders of Glycosylation*/genetics

  • Source: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103381. Date of Electronic Publication: 2024 Mar 08.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Report

A novel heterozygous frameshift c.277del p.Thr93Leufs*21 mutation in SERPINC1 associated with type 1 antithrombin deficiency.

  • Authors : Kumar R; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.

Subjects: Antithrombin III*/Antithrombin III*/Antithrombin III*/genetics ; Frameshift Mutation* ; Antithrombin III Deficiency*/Antithrombin III Deficiency*/Antithrombin III Deficiency*/genetics

  • Source: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Jun; Vol. 71 (6), pp. e30986. Date of Electronic Publication: 2024 Apr 02.Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Circulating transthyretin and retinol binding protein 4 levels among middle-age V122I TTR carriers in the general population.

  • Authors : Hendren NS; Department of Internal Medicine, Division of Cardiology, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Parkland Health System, Dallas, TX, USA.

Subjects: Prealbumin*/Prealbumin*/Prealbumin*/genetics ; Prealbumin*/Prealbumin*/Prealbumin*/metabolism ; Retinol-Binding Proteins, Plasma*/Retinol-Binding Proteins, Plasma*/Retinol-Binding Proteins, Plasma*/genetics Amyloidosis, Hereditary, Transthyretin-Related

  • Source: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis [Amyloid] 2024 Jun; Vol. 31 (2), pp. Publisher: Taylor & Francis Country of Publication: England NLM ID: 9433802 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Establishment of a non-integrated iPSC (SDQLCHi066-A) line derived from Segawa syndrome patients harboring heterozygous mutations in the TH gene (p.G247S and p.D491H).

  • Authors : Zhang X; Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; The Second Hospital of Shandong University, Jinan, Shandong 250033, China.

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Heterozygote* ; Mutation*

  • Source: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103392. Date of Electronic Publication: 2024 Mar 14.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Editorial & Opinion

Combination of heterozygous APOB gene mutation with PNPLA3 and TM6SF2 variants promotes steatotic liver disease, cirrhosis and HCC development.

  • Authors : Chouik Y; INSERM U1052, CNRS UMR_5286, Cancer Research Center of Lyon, Lyon, France.; University of Lyon, Université Claude-Bernard 1, UMR_S1052, Lyon, France.

Subjects: Membrane Proteins*/Membrane Proteins*/Membrane Proteins*/genetics ; Carcinoma, Hepatocellular*/Carcinoma, Hepatocellular*/Carcinoma, Hepatocellular*/genetics ; Lipase*/Lipase*/Lipase*/genetics

  • Source: Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2024 Jun; Vol. 44 (6), pp. 1474-1477. Date of Electronic Publication: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis.

  • Authors : Kiener S; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.; Dermfocus, University of Bern, Bern, Switzerland.

Subjects: Frameshift Mutation* ; Heterozygote* ; Ichthyosis*/Ichthyosis*/Ichthyosis*/genetics

  • Source: Animal genetics [Anim Genet] 2024 Jun; Vol. 55 (3), pp. 490-492. Date of Electronic Publication: 2024 Mar 28.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  244,130 results for ""Heterozygote""