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Article
Open AccessSuppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1
Apoptosis occurs during development when a separation of tissues is needed. Synovial joint formation is initiated at the presumptive site (interzone) within a cartilage anlagen, with changes in cellular differ...
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Article
Open AccessScoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients
Scoliosis is widely prevalent among osteogenesis imperfecta (OI) patients, and is progressive with age. However, factors affecting scoliosis in OI are not well known.
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Article
Open AccessRetrospective analyses of clinical features in 28 Chinese patients with type V osteogenesis imperfecta: new perspectives in an old issue
Type V osteogenesis imperfecta (OI) is a form of OI characterized by radial head dislocation (RHD), calcification of interosseous membrane (CIM), and hyperplastic callus (HPC). In this study, we characterized ...
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Article
Open AccessPatient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations
Osteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological distress on patients and caregivers. Over the decades, much effort has been...
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Article
Open AccessDESE: estimating driver tissues by selective expression of genes associated with complex diseases or traits
The driver tissues or cell types in which susceptibility genes initiate diseases remain elusive. We develop a unified framework to detect the causal tissues of complex diseases or traits according to selective...
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Article
Open AccessA gene signature based method for identifying subtypes and subtype-specific drivers in cancer with an application to medulloblastoma
Subtypes are widely found in cancer. They are characterized with different behaviors in clinical and molecular profiles, such as survival rates, gene signature and copy number aberrations (CNAs). While cancer ...
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Chapter and Conference Paper
Extracting Key Pathways from Gene Signature and Genetic Aberrations in Subtypes of Cancer
Subtypes of cancer are characterized with subtype-specific aberrations and gene signature. While the gene signature is related to the consequences of the cancerous process, some of the genetic abnormalities su...
