Results 31 to 40 of about 8,531 (188)

Electroporation-Mediated Genome Editing of Livestock Zygotes

Frontiers in Genetics, 2021
The introduction of genome editing reagents into mammalian zygotes has traditionally been accomplished by cytoplasmic or pronuclear microinjection. This time-consuming procedure requires expensive equipment and a high level of skill.
Jason C. Lin, Alison L. Van Eenennaam
doaj   +1 more source

The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant [PDF]

Molecular Case Studies, 2021
We report a patient with a germline RIT1 and a mosaic PIK3CA variant. The diagnosis of the RASopathy was confirmed by targeted sequencing following the identification of transient cardiomyopathy in a patient with PIK3CA-related overgrowth spectrum (PROS).
Siren Berland, Jørgen Jareld, Nicholas Hickson, Helene Schlecht, Gunnar Houge, Sofia Douzgou   +5 more
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High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

Molecular Genetics & Genomic Medicine, 2022
Background Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) results from haploinsufficiency of the mesenchymal transcription factor FOXF1 gene. To date, only one case of an ACDMPV‐causative CNV deletion inherited from a very‐low
Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemyslaw Szafranski, Tomasz Gambin, Nicholas Willard, Steven H. Abman, Csaba Galambos, John P. Kinsella, Paweł Stankiewicz   +8 more
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Germline and gonosomal mosaicism in the ATR-X syndrome [PDF]

European Journal of Human Genetics, 1999
We have identified two females who are mosaic for an ATRX mutation. One case, in whom the mutation was undetectable in peripheral blood and buccal cells, has two affected sons and is therefore presumed to be a germline mosaic. In another case, the ATRX mutation is weakly detectable in the peripheral blood but only one of her three children who share ...
Bachoo, S, Gibbons, R
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Scientific Reports, 2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié   +24 more
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Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

Frontiers in Pediatrics, 2021
Rett syndrome is an X-linked dominant, postnatal neurological disorder. Approximately 80–90% of classic Rett syndrome patients harbor mutations in the coding region of MECP2.
Honghong Zhang, Yixi Sun, Yixi Sun, Yuxia Zhu, Jiali Hong, Miaomiao Zheng   +5 more
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Cutaneous mosaicism: Special considerations for women

International Journal of Women's Dermatology, 2021
Genetic mosaicism results from postzygotic mutations during embryogenesis. Cells harboring pathogenic mutations distribute throughout the developing embryo and can cause clinical disease in the tissues they populate.
Katharine T. Ellis, BS, Diana Ovejero, MD, PhD, Keith A. Choate, MD, PhD   +2 more
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First description of germline mosaicism in familial hypertrophic cardiomyopathy [PDF]

Journal of Medical Genetics, 2000
Familial hypertrophic cardiomyopathy is a genetically and phenotypically heterogeneous disease caused by mutations in seven sarcomeric protein genes. It is known to be transmitted as an autosomal dominant trait with rare de novo mutations. A French family in which two members are affected by hypertrophic cardiomyopathy was clinically ...
J F, Forissier, P, Richard, S, Briault, C, Ledeuil, O, Dubourg, B, Charbonnier, L, Carrier, C, Moraine, G, Bonne, M, Komajda, K, Schwartz, B, Hainque   +11 more
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Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa [PDF]

Journal of Investigative Dermatology, 2001
Here, we report a family with one child affected by mild DEB. At birth, blistering and denuded areas were present together with the syndactyly of the second and third toes. By the age of 11 mo, blistering was significantly reduced but the blisters healed with hyperpigmented and hypopigmented scars and milia.
Cserhalmi-Friedman, Peter B., Garzon, Maria C., Guzman, Edwin, Martinez-Mir, Amalia, Chung, Wendy K., Anyane-Yeboa, Kwame, Christiano, Angela M.   +6 more
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Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review

Current Issues in Molecular Biology
Germline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling.
Lisa Dangreau, Mohammad J. Hosen, Julie De Zaeytijd, Bart P. Leroy, Paul J. Coucke, Olivier M. Vanakker   +5 more
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