111 research outputs found
Supplemental_table_1 – Supplemental material for Opportunities and Challenges for Genetic Studies of End-Stage Renal Disease in Canada
No full textSupplemental material, Supplemental_table_1 for Opportunities and Challenges for Genetic Studies of End-Stage Renal Disease in Canada by Vinusha Kalatharan, Mathieu Lemaire and Matthew B. Lanktree in Canadian Journal of Kidney Health and Disease</p
sj-jpg-1-cjk-10.1177_20543581231212038 – Supplemental material for The Good and the Bad of SHROOM3 in Kidney Development and Disease: A Narrative Review
No full textSupplemental material, sj-jpg-1-cjk-10.1177_20543581231212038 for The Good and the Bad of SHROOM3 in Kidney Development and Disease: A Narrative Review by Amy Paul, Allison Lawlor, Kristina Cunanan, Pukhraj S. Gaheer, Aditya Kalra, Melody Napoleone, Matthew B. Lanktree and Darren Bridgewater in Canadian Journal of Kidney Health and Disease</p
Association study of brain-derived neurotrophic factor (BDNF) and LIN-7 homolog (LIN-7) genes with adult attention-deficit/hyperactivity disorder
No full textAttention-deficit/hyperactivity disorder (ADHD) is a common psychiatric disorder with a large genetic component that has been shown to persist into adulthood in 30-60% of childhood ADHD cases. Adult ADHD confers an increased risk of ADHD in relatives when compared to childhood ADHD, possibly due to a greater genetic liability than the childhood form. Brain-derived neurotrophic factor (BDNF) is a neurotrophin expressed in the brain throughout life and is involved in survival, differentiation, and synaptic plasticity of several neuronal systems including dopaminergic pathways. Mammalian LIN-7 homolog is selectively expressed in specific neuronal populations and is involved in the postsynaptic density of neuronal synapses. LIN-7 is also a positional candidate, as it lies immediately downstream of BDNF. We tested for association between five BDNF polymorphisms, two LIN-7 polymorphisms and adult ADHD. The sample consisted of 80 trios comprised of an adult ADHD proband and their biological parents and an independent sample of 121 adult ADHD cases and a corresponding number of sex, age, and ethnically matched controls (total 201 probands). Allelic and haplotype association was found between both BDNF and adult ADHD, and LIN-7 and adult ADHD. HapMap indicates BDNF and LIN-7 occur in different haplotype blocks, though some linkage disequilibrium exists between the SNPs in these adjacent genes. Further investigations into the pathologic mechanisms of BDNF and LIN-7 in adult ADHD are required
Evidence for Kidney Volume as a Measure of ADPKD Severity “Marches On” in the OVERTURE Study
No full text
Large Kidney Cysts in Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease
No full textRationale: Hepatocyte nuclear factor 1 beta ( HNF1B ) nephropathy is a rare autosomal dominant monogenic kidney disease. We present a case mimicking autosomal dominant polycystic kidney disease (ADPKD), highlighting the phenotypic heterogeneity of HNF1B -related disease. Presenting concerns of the patient: A 37-year-old man presented with hypertensive urgency, accompanied by flank pain and abdominal distension. Despite the absence of familial kidney disease, imaging revealed large bilateral kidney cysts resembling ADPKD. Diagnosis: We initially suspected de novo ADPKD. However, negative genetic testing results for PKD1 and PKD2 led to a 43-gene cystic kidney sequencing panel which identified a deletion encompassing the entire HNF1B gene. Intervention: To alleviate discomfort caused by the kidney cysts, ultrasound-guided aspiration and foam sclerotherapy were performed. Tolvaptan, used for treating high-risk ADPKD, was not prescribed after confirming the diagnosis was HNF1B nephropathy. Outcomes: A diagnosis of HNF1B nephropathy was reached following gene panel testing. Abdominal symptoms improved following cyst aspiration and foam sclerotherapy. Novel findings: HNF1B nephropathy has a variable presentation but can lead to cysts appearing like ADPKD. A 43-gene cystic kidney sequencing panel identified the diagnosis in this uncertain case
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