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Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

• Authors : Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.

Subjects: Loss of Heterozygosity* ; Proto-Oncogene Proteins c-cbl*/Proto-Oncogene Proteins c-cbl*/Proto-Oncogene Proteins c-cbl*/genetics ; Proto-Oncogene Proteins c-cbl*/Proto-Oncogene Proteins c-cbl*/Proto-Oncogene Proteins c-cbl*/metabolism

• Source: The Journal of clinical investigation [J Clin Invest] 2024 Oct 15; Vol. 134 (20). Date of Electronic Publication: 2024 Oct 15.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation

• Source: Journal of Clinical Investigation. October 15, 2024, Vol. 134 Issue 20

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Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages

• Authors : Prod'Homme, Virginie; Boyer, Laurent; Dubois, Nicholas

• Source: Journal of Clinical Investigation. April 1, 2015, p1396, 5 p.

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Combined heterozygosity of FLT3 ITD, TET2, and DNMT3A results in aggressive leukemia.

• Authors : Ramdas B; Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Lakshmi Reddy P

Subjects: DNA Methyltransferase 3A*/DNA Methyltransferase 3A*/DNA Methyltransferase 3A*/genetics ; DNA-Binding Proteins*/DNA-Binding Proteins*/DNA-Binding Proteins*/genetics ; Dioxygenases*/Dioxygenases*/Dioxygenases*/genetics

• Source: JCI insight [JCI Insight] 2022 Sep 08; Vol. 7 (17). Date of Electronic Publication: 2022 Sep 08.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model:

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Notch1 loss of heterozygosity causes vascular tumors and lethal hemorrhage in mice

• Authors : Liu, Zhenyi; Turkoz, Ahu; Jackson, Erin N.

• Source: Journal of Clinical Investigation. February, 2011, Vol. 121 Issue 2, p800, 9 p.

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Hyperglycemia cooperates with Tet2 heterozygosity to induce leukemia driven by proinflammatory cytokine-induced lncRNA Morrbid

• Authors : Cai, Zhigang; Lu, Xiaoyu; Zhang, Chi

• Source: Journal of Clinical Investigation. January, 2021, Vol. 131 Issue 1

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Pcif1 modulates Pdx1 protein stability and pancreatic β cell function and survival in mice.

• Authors : Claiborn, Kathryn C.¹; Sachdeva, Mira M.¹; Cannon, Corey E.¹

Subjects: *TREATMENT of diabetes; *HETEROZYGOSITY; *CELL physiology

• Source: Journal of Clinical Investigation. Oct2010, Vol. 120 Issue 10, p3713-3721. 9p. 1 Color Photograph, 2 Black and White Photographs, 5 Graphs.

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Heterozygosity for a defective gene for CC chemokine receptor 5 is not the sole determinant for the immunologic and virologic phenotype of HIV-infected long-term nonprogressors.

• Authors : Cohen OJ; Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland 20892, USA.; Vaccarezza M

Subjects: Mutation*; HIV Infections/HIV Infections/HIV Infections/*genetics ; HIV-1/HIV-1/HIV-1/*pathogenicity

• Source: The Journal of clinical investigation [J Clin Invest] 1997 Sep 15; Vol. 100 (6), pp. 1581-9.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Germline mutations in a DNA repair pathway are associated with familial colorectal cancer.

• Authors : Xu P; State Key Laboratory for Oncogenes and Related Genes, Key Laboratory of Gastroenterology & Hepatology, Ministry of Health, Division of Gastroenterology and Hepatology, Shanghai Institute of Digestive Disease.; Sun D

Subjects: Checkpoint Kinase 2/Checkpoint Kinase 2/Checkpoint Kinase 2/*genetics ; Colorectal Neoplasms/Colorectal Neoplasms/Colorectal Neoplasms/*genetics ; DNA Repair/DNA Repair/DNA Repair/*genetics

• Source: JCI insight [JCI Insight] 2021 Sep 22; Vol. 6 (18). Date of Electronic Publication: 2021 Sep 22.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model:

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Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas.

• Authors : Khosla S; Department of Endocrinology and Internal Medicine, Mayo Clinic, Rochester, Minnesota 55905.; Patel VM

Subjects: Chromosome Deletion* ; Heterozygote*; Adrenal Gland Neoplasms/Adrenal Gland Neoplasms/Adrenal Gland Neoplasms/*genetics

• Source: The Journal of clinical investigation [J Clin Invest] 1991 May; Vol. 87 (5), pp. 1691-9.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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