Categoría: Articulos
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Loss of the human BRIP1 C terminus does not cause Fanconi anemia
Eleven individuals homozygous for C-terminally truncating BRIP1 variants do not exhibit symptoms of Fanconi anemia. Droste et al. characterize the cellular phenotype, demonstrating that a functional N-terminal helicase domain provides resistance to DNA…
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Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance
By harmonizing functional data for 9,424 BRCA1 and BRCA2 missense variants and applying ClinGen guidelines, Lyra, Jr. et al. establish an integrated framework whose pathogenicity assignments track with breast cancer risk. Functional data combined with …
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Clinicopathological, imaging and genetic spectrum of inherited rimmed vacuolar myopathies in a Chinese cohort
WHAT IS ALREADY KNOWN ON THIS TOPICInherited rimmed vacuolar myopathies (RVMs) are a genetically heterogeneous group of disorders characterised by rimmed vacuoles on muscle biopsy.Most reports focus on individual subtypes, and comprehensive clinicopath…
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Integrating deep-exome sequencing and droplet digital PCR for genetic diagnosis of 142 patients with somatic overgrowth and vascular malformation
WHAT IS ALREADY KNOWN ON THIS TOPICSomatic overgrowth syndromes and vascular malformation disorders are often caused by mosaic variants with low allele frequencies, presenting substantial diagnostic challenges that have historically resulted in many pa…
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Recurrent helical COL1A1 E678K variant in three families with an EDS-predominant phenotype expanding the clinical and molecular spectrum of COL1-related overlap disorder
BackgroundType I collagen, important for tissue integrity and strength, is comprised of two α1 chains and one α2 chain that form a triple helix. The collagen type 1 alpha 1 chain (COL1A1) gene encodes the pro-alpha 1 chains of type I collag…
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Clinicopathological, imaging and genetic spectrum of inherited rimmed vacuolar myopathies in a Chinese cohort
WHAT IS ALREADY KNOWN ON THIS TOPICInherited rimmed vacuolar myopathies (RVMs) are a genetically heterogeneous group of disorders characterised by rimmed vacuoles on muscle biopsy.Most reports focus on individual subtypes, and comprehensive clinicopath…
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Integrating deep-exome sequencing and droplet digital PCR for genetic diagnosis of 142 patients with somatic overgrowth and vascular malformation
WHAT IS ALREADY KNOWN ON THIS TOPICSomatic overgrowth syndromes and vascular malformation disorders are often caused by mosaic variants with low allele frequencies, presenting substantial diagnostic challenges that have historically resulted in many pa…
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Recurrent helical COL1A1 E678K variant in three families with an EDS-predominant phenotype expanding the clinical and molecular spectrum of COL1-related overlap disorder
BackgroundType I collagen, important for tissue integrity and strength, is comprised of two α1 chains and one α2 chain that form a triple helix. The collagen type 1 alpha 1 chain (COL1A1) gene encodes the pro-alpha 1 chains of type I collag…
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Experiments reveal how DNA-packaging protein mutation promotes breast cancer spread
A research team led by professor Chan Kui-ming from the Department of Biomedical Sciences at CityUHK discovered that H2BE113K, a missense H2B mutation, promotes colony formation and lung metastasis in breast cancer. The research revealed that H2BE113K …
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Experiments reveal how DNA-packaging protein mutation promotes breast cancer spread
A research team led by professor Chan Kui-ming from the Department of Biomedical Sciences at CityUHK discovered that H2BE113K, a missense H2B mutation, promotes colony formation and lung metastasis in breast cancer. The research revealed that H2BE113K …