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Invasive apocrine carcinoma of the breast: clinicopathologic features and comprehensive genomic profiling of 18 pure triple-negative apocrine carcinomas
Pure invasive apocrine carcinoma is a rare type of primary breast cancer, constituting ~1% of all breast cancers. Since most pure invasive apocrine...
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Antisense Oligonucleotide Therapeutics for Neurodegenerative Disorders
Purpose of ReviewExpanding therapeutic targets from proteins to RNAs opens up new possibilities for neurodegenerative disorders therapeutics...
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Association between SCN5A and sudden unexplained nocturnal death syndrome in Thai decedents: a case–control study
BackgroundSudden unexplained nocturnal death syndrome (SUNDS) is a genetic disorder that can cause sudden death in young and healthy adults during...
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Round Cell Sarcoma with EWSR1-PATZ1 Fusion in the Face of a Five-Year-Old Boy: Report of a Case with Unusual Histologic Features
Round cell sarcomas with EWSR1-PATZ1 fusion are rare polyphenotypic sarcomas that typically show both neural and myogenic differentiation on...
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Preclinical models of prostate cancer — modelling androgen dependency and castration resistance in vitro, ex vivo and in vivo
Prostate cancer is well known to be dependent on the androgen receptor (AR) for growth and survival. Thus, AR is the main pharmacological target to...
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A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet–Biedl syndrome
PurposeBardet–Biedl syndrome (BBS: OMIM 209,900) is a rare ciliopathic human genetic disorder that affects many parts of the body systems. BBS is a...
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Marfan syndrome
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial...
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Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia
Blast crisis of chronic myeloid leukemia is associated with poor survival and the accumulation of genomic lesions. Using whole-exome and/or RNA...
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The functional mechanisms of mutations in myelodysplastic syndrome
Overlap** spectrum of mutated genes affected in myelodysplastic syndrome (MDS) and primary acute myeloid leukemia suggest common pathogenic...
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Selective targeting of the androgen receptor-DNA binding domain by the novel antiandrogen SBF-1 and inhibition of the growth of prostate cancer cells
Prostate cancers are reliant on androgens for growth and survival. Clinicians and researchers are looking for potent treatments for the resistant...
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Nodular fasciitis of the breast: clinicopathologic and molecular characterization with identification of novel USP6 fusion partners
Nodular fasciitis is a benign, self-limited, pseudosarcomatous neoplasm that can mimic malignancy due to its rapid growth, cellularity, and mitotic...
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Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants
BackgroundBirt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and...
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Autism patient-derived SHANK2BY29X mutation affects the development of ALDH1A1 negative dopamine neuron
Autism spectrum disorder (ASD) encompasses a range of neurodevelopmental conditions. Different mutations on a single ASD gene contribute to...
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Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree
Tourette syndrome (TS) is a highly heritable neuropsychiatric disorder with complex patterns of genetic inheritance. Recent genetic findings in TS...
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C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China
BackgroundBeta-ketothiolase deficiency (BKTD) is an autosomal recessive disorder caused by biallelic mutation of ACAT1 that affects both isoleucine...
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PPARγ and Diabetes: Beyond the Genome and Towards Personalized Medicine
Purpose of ReviewFull and partial synthetic agonists targeting the transcription factor PPARγ are contained in FDA-approved insulin-sensitizing drugs...
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Lipodystrophy-associated progeroid syndromes
With the exception of HIV-associated lipodystrophy, lipodystrophy syndromes are rare conditions characterized by a lack of adipose tissue, which is...
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Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C
In the era of next generation sequencing (NGS), genetic testing for inherited disorders identifies an ever-increasing number of variants whose...
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Circular RNA vaccine in disease prevention and treatment
CircRNAs are a class of single-stranded RNAs with covalently linked head-to-tail topology. In the decades since its initial discovery, their...
