The Duchenne muscular dystrophy gene and cancer
Abstract Background Mutation of the Duchenne muscular dystrophy (DMD) gene causes
Duchenne and Becker muscular dystrophy, degenerative neuromuscular disorders that …
Duchenne and Becker muscular dystrophy, degenerative neuromuscular disorders that …
Somatic mutations in neurodegeneration
M Leija‐Salazar, C Piette… - … and applied neurobiology, 2018 - Wiley Online Library
Somatic mutations are postzygotic mutations which may lead to mosaicism, the presence of
cells with genetic differences in an organism. Their role in cancer is well established, but …
cells with genetic differences in an organism. Their role in cancer is well established, but …
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets
Metastatic and locally-advanced neuroendocrine neoplasms (aNEN) form clinically and
genetically heterogeneous malignancies, characterized by distinct prognoses based upon …
genetically heterogeneous malignancies, characterized by distinct prognoses based upon …
Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue
Background Parkinson's disease (PD) is a neurodegenerative disease characterized by
selective degeneration of dopaminergic neurons in the substantia nigra (SN). The familial …
selective degeneration of dopaminergic neurons in the substantia nigra (SN). The familial …
Simultaneous identification of multiple driver pathways in cancer
MDM Leiserson, D Blokh, R Sharan… - PLoS computational …, 2013 - journals.plos.org
Distinguishing the somatic mutations responsible for cancer (driver mutations) from random,
passenger mutations is a key challenge in cancer genomics. Driver mutations generally …
passenger mutations is a key challenge in cancer genomics. Driver mutations generally …
Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2
HL Gardner, K Sivaprakasam, N Briones… - Communications …, 2019 - nature.com
Osteosarcoma (OS) is a rare, metastatic, human adolescent cancer that also occurs in pet
dogs. To define the genomic underpinnings of canine OS, we performed multi-platform …
dogs. To define the genomic underpinnings of canine OS, we performed multi-platform …
Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease
Abstract Background Parkin RBR E3 ubiquitin‐protein ligase (PRKN) mutations are the most
common cause of young onset and autosomal recessive Parkinson's disease (PD). PRKN is …
common cause of young onset and autosomal recessive Parkinson's disease (PD). PRKN is …
PINK1/Parkin influences cell cycle by sequestering TBK1 at damaged mitochondria, inhibiting mitosis
PINK1 and Parkin are established mediators of mitophagy, the selective removal of
damaged mitochondria by autophagy. PINK1 and Parkin have been proposed to act as …
damaged mitochondria by autophagy. PINK1 and Parkin have been proposed to act as …
Genetic insights into sporadic Parkinson's disease pathogenesis
Intensive research over the last 15 years has led to the identification of several autosomal
recessive and dominant genes that cause familial Parkinson's disease (PD). Importantly, the …
recessive and dominant genes that cause familial Parkinson's disease (PD). Importantly, the …
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy
MA Waldrop, SA Moore, KD Mathews… - Human …, 2022 - Wiley Online Library
DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with
high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of …
high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of …