Germline Mutation

Germline mutation is a genetic mutation that occurs during the formation of gametes or reproductive cells (sperm, eggs) and is passed from parent to child. It is a permanent change to the germline, passed on from generation to generation, and can be the cause of genetic diseases or abnormalities. It can also increase the risk of cancer in adults. Germline mutations have been studied to understand the genetic basis of diseases and to develop therapeutic strategies for their treatment. They have also been used in genetic screening for inherited diseases and for gene therapy.


From: International Journal of Cell

Related Article For "Germline Mutation"

About (13) results

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Branch Retinal Vein Occlusion in Factor V Leiden Mutation

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Skeletal Muscle Calcium Channel Mutation R528G: Enhanced Channel Inactivation and Omega-Current at Hyperpolarization Contribute to Hypokalemic Periodic Paralysis.

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The Identification of Somatic Mutations in Interferon-G Signal Molecules in Human Uterine Leiomyosarcoma

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Cancer Genetics And Biomarkers

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Recurrent branch retinal arterial occlusions associated with plasminogen activator inhibitor-1 mutation

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Ophthalmic Science

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Melanoma of the Breast with Smoothened (SMO) Mutation: Case Report and review of the Literature

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Cancer Genetics And Biomarkers

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Transmutation of Sweat Glands - Eccrine Porocarcinoma

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Clinical and Diagnostic Pathology

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Characterization of rpoB Gene Mutations Associated with Rifampicin Resistance in Multidrug Resistant Tuberculosis Patients Co-infected with HIV from Southern India.

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Drug Resistant Pathogen Research

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Genetic-Mathematical Modelling of Mutational Processes in a Population

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Genetic Engineering

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An Algorithm to Predict the Possible SARS-CoV-2 Mutations

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International Journal of Coronaviruses

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A New Gene Mutation of PRKAR1A was found in a Carney Complex Case

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Clinical Case reports and Images

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Targeting Mutational Landscape of TP53 in patients diagnosed with Oral Cancer living in Senegal

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Cancer Genetics And Biomarkers

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Prolonged survival of Diamond-Blackfan anemia and RPS19 mutation: an observation in Togo

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Hematology and Oncology Research

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A Trio Study Showing Novel Gene Mutation In LAMB3 Causing Junctional Epidermolysis Bullosa (Intermediate/ Severe)

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Hereditary Diseases