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Publication : international journal of molecular sciences

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Academic Journal

Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.

Authors : Piga, Daniela¹ (AUTHOR) ; Zanotti, Simona² (AUTHOR); Ripolone, Michela² (AUTHOR)

Subjects: *INCLUSION body myositis; *CELLULAR inclusions; *NEMALINE myopathy

Source: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 12, p6547. 9p.

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Academic Journal

SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.

Authors : Elert-Dobkowska, Ewelina¹ (AUTHOR) ; Stepniak, Iwona¹ (AUTHOR) ; Radziwonik-Fraczyk, Wiktoria¹ (AUTHOR)

Subjects: *FAMILIAL spastic paraplegia; *SINGLE nucleotide polymorphisms; *HOMOLOGOUS recombination

Source: International Journal of Molecular Sciences. May2024, Vol. 25 Issue 9, p5008. 8p.

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Academic Journal

The Influence of a Genetic Variant in CCDC78 on LMNA -Associated Skeletal Muscle Disease.

Authors : Mohar, Nathaniel P.^1,2 (AUTHOR) ; Cox, Efrem M.^3,4 (AUTHOR) ; Adelizzi, Emily^1,5 (AUTHOR)

Subjects: *GENETIC variation; *LIMB-girdle muscular dystrophy; *MUSCLE diseases

Source: International Journal of Molecular Sciences. May2024, Vol. 25 Issue 9, p4930. 25p.

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Academic Journal

Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family.

Authors : Sedaghat-Hamedani, Farbod^1,2,3 (AUTHOR); Rebs, Sabine^4,5,6 (AUTHOR); Kayvanpour, Elham^1,2,3 (AUTHOR)

Subjects: *RNA splicing; *PHENOTYPES; *RNA sequencing

Source: International Journal of Molecular Sciences. Oct2022, Vol. 23 Issue 20, p12230-N.PAG. 11p.

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Academic Journal

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

Authors : Razman, Aimi Zafira¹ (AUTHOR); Chua, Yung-An^1,2 (AUTHOR); Mohd Kasim, Noor Alicezah^1,3 (AUTHOR)

Subjects: *GENETIC variation; *COMMUNITIES; *NUCLEOTIDE sequencingMALAYSIA

Source: International Journal of Molecular Sciences. Dec2022, Vol. 23 Issue 23, p14971. 25p.

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Academic Journal

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Authors : Milanowski, Lukasz M.^1,2,3 (AUTHOR) ; Hou, Xu² (AUTHOR) ; Bredenberg, Jenny M.² (AUTHOR)

Subjects: *PARKINSON'S disease; *CATHEPSIN B; *LOCALIZATION (Mathematics)

Source: International Journal of Molecular Sciences. Jul2022, Vol. 23 Issue 13, p7086-N.PAG. 12p.

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Academic Journal

Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.

Authors : van der Merwe, Nicole¹ ; Peeters, Armand V.¹ ; Pienaar, Fredrieka M.²

Subjects: *BREAST cancer; *EXOMES; *METHYLATION

Source: International Journal of Molecular Sciences. Feb2017, Vol. 18 Issue 2, p467. 17p.

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iPSC-Derived Hereditary Breast Cancer Model Reveals the BRCA1 -Deleted Tumor Niche as a New Culprit in Disease Progression.

Authors : Portier, Lucie¹ (AUTHOR) ; Desterke, Christophe^1,2 (AUTHOR) ; Chaker, Diana^1,2 (AUTHOR)

Subjects: *MONONUCLEAR leukocytes; *BREAST cancer; *INDUCED pluripotent stem cells

Source: International Journal of Molecular Sciences. Feb2021, Vol. 22 Issue 3, p1227-1227. 1p.

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Academic Journal

A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort.

Authors : Bueno Marinas, Maria¹ (AUTHOR) ; Celeghin, Rudy¹ (AUTHOR) ; Cason, Marco¹ (AUTHOR)

Subjects: *CARDIOMYOPATHIES; *HYPERTROPHIC cardiomyopathy; *DILATED cardiomyopathy

Source: International Journal of Molecular Sciences. Feb2020, Vol. 21 Issue 4, p1536. 1p.

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Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing

Authors : Aimi Zafira Razman; Yung-An Chua; Noor Alicezah Mohd Kasim

Subjects: Inorganic Chemistry; Organic Chemistry; General Medicine

Source: International Journal of Molecular Sciences; Volume 23; Issue 23; Pages: 14971

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فلترة النتائج

Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.

SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.

The Influence of a Genetic Variant in CCDC78 on LMNA -Associated Skeletal Muscle Disease.

Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family.

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.

iPSC-Derived Hereditary Breast Cancer Model Reveals the BRCA1 -Deleted Tumor Niche as a New Culprit in Disease Progression.

A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort.

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing

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