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A unique three-way Philadelphia chromosome variant t(4;9;22)(q21;q34;q11.2) in a newly diagnosed patient with chronic phase chronic myeloid leukemia: a case report and review of the literature
BackgroundChronic myeloid leukemia is a hematologic malignancy associated with the fusion of two genes: BCR and ABL1. This fusion results from a...
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Parkinson-Krankheit und Demenz vom Alzheimer-Typ – Pathophysiologie und medikamentöse Therapieansätze
Symptomatically effective forms of treatment for neurodegenerative diseases have been developed in the last 50 years based on the knowledge about the...
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Cardiometabolic comorbidities in autosomal dominant polycystic kidney disease: a 16-year retrospective cohort study
BackgroundAutosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disease and the fourth leading cause of...
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Pathogenesis of Parkinson’s disease: from hints from monogenic familial PD to biomarkers
Twenty-five years have passed since the causative gene for familial Parkinson's disease (PD), Parkin (now PRKN ), was identified in 1998; PRKN is the...
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Detailed insight into the pathophysiology and the behavioral complications associated with the Parkinson's disease and its medications
BackgroundThe loss of dopamine neurons in the substantia nigra, as well as other mostly catecholaminergic neurons, causes many of the motor symptoms...
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The Role of DMP1 in CKD-MBD
Purpose of ReviewChronic kidney disease–mineral and bone disorder (CKD-MBD) has become a global health crisis with very limited therapeutic options....
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Type IV choledochal cyst with polycystic kidney disease: a case report
BackgroundCholedochal cysts are divided into 5 types. Physicians believe that Caroli disease (which refers to type V biliary cysts) is a special type...
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The functional extracellular matrix on the regulation of odontogenic differentiation of stem cells
Dental defects and loss are common oral diseases that seriously affect the chewing efficiency of patients and thereby affect their health. With the...
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Predicted Cellular and Molecular Actions of Lithium in the Treatment of Bipolar Disorder: An In Silico Study
BackgroundLithium remains the first-line treatment for bipolar disorder (BD), but patients respond to it variably. While a myriad of studies have...
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A comprehensive PGT-M strategy for ADPKD patients with de novo PKD1 mutations using affected embryo or gametes as proband
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease characterized by the development of renal cysts and...
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A Presumed Synonymous Mutation of PKD2 Caused Autosomal Dominant Polycystic Kidney Disease in a Chinese Family
ObjectiveAutosomal dominant polycystic kidney disease (ADPKD) is mainly caused by the pathogenic mutation of PKD1 or PKD2 gene and usually affects...
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Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies
Clinical utility of Array-CGH Easychip 8x15K platform can be assessed by testing its ability to detect the occurrence of pathogenic copy number...
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Systematic review and meta-analysis of genetic association studies of pelvic organ prolapse
Introduction and hypothesisFamily and twin studies demonstrate that pelvic organ prolapse (POP) is heritable, but the genetic etiology is poorly...
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G3BP2 regulated by the lncRNA LINC01554 facilitates esophageal squamous cell carcinoma metastasis through stabilizing HDGF transcript
Metastasis is the leading cause of death of patients with esophageal squamous cell carcinoma (ESCC). Although an increasing number of studies have...
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RNA binding proteins in MLL-rearranged leukemia
RNA binding proteins (RBPs) have recently emerged as important post-transcriptional gene expression regulators in both normal development and...
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Management of Hypertension in the Asia-Pacific Region: A Structured Review
This article reviews available evidence regarding hypertension management in the Asia-Pacific region, focussing on five research questions that deal...
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Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations
BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder caused by mutations in the polycystic kidney disease ( PKD )...
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Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families
IntroductionCongenital anomalies of the kidney and urinary tract (CAKUT) are a group of abnormalities that affect structure of the kidneys or other...
