Modeling congenital kidney diseases in Xenopus laevis
Disease Models & Mechanisms, 2019 Congenital anomalies of the kidney and urinary tract (CAKUT) occur in ∼1/500 live births and are a leading cause of pediatric kidney failure. With an average wait time of 3-5 years for a kidney transplant, the need is high for the development of new ...
Alexandria T. M. Blackburn +1 more
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Síndrome de Joubert: grande variabilidade clínica e uma neuroimagem característica [PDF]
, 2010 Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis ...
KOK, Fernando +4 more
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Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]
, 2018 Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes,
Dutcher, Susan K. +3 more
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Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]
, 2014 Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H +17 more
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Clinical and Translational MedicineIntroduction Nephronophthisis (NPH) is an autosomal recessive interstitial cystic kidney disease, which is the most common genetic cause of end‐stage renal disease (ESRD) in childhood.
Yichen Yang +9 more
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Compromised vertebral structural and mechanical properties associated with progressive kidney disease and the effects of traditional pharmacological interventions [PDF]
, 2015 BACKGROUND/AIMS: Patients with chronic kidney disease mineral and bone disorder (CKD-MBD) have a significantly higher vertebral and non-vertebral fracture risk than the general population.
Allen, Matthew R. +6 more
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Calcitriol suppression of parathyroid hormone fails to improve skeletal properties in an animal model of chronic kidney disease [PDF]
, 2016 BACKGROUND: Chronic kidney disease (CKD) leads to complex metabolic changes and an increased risk of fracture. Currently, calcitriol is the standard of care as it effectively suppresses parathyroid hormone (PTH) levels in CKD patients.
Allen, Matthew R. +7 more
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Effectiveness and safety of the angiotensin II antagonist irbesartan in children with chronic kidney diseases [PDF]
, 2017 Background: Studies in adults with chronic kidney diseases demonstrate that the orally available angiotensin II antagonist irbesartan reduces arterial pressure and pathological proteinuria, mostly with an excellent tolerability profile.
Bianchetti, Mario G. +5 more
core
Nephrocystin-3gene mutation causes1case of infant nephronophthisis and literature review
Linchuang shenzangbing zazhi, 2020 病例资料患者,女,1岁9个月。因"皮肤瘙痒3个月,发现血肌酐升高1个月"于2019年4月9日入住我科。患儿于入院前3个月无明显诱因出现全身皮肤瘙痒,无发热、咳涕,无吐泻,无皮疹、关节疼痛,无浮肿等不适;至当地医院皮肤科间断治疗2个月,症状无改善。20余天前无明显诱因下出现呕吐、腹泻,呕吐非喷射性,呕吐物无血丝、血块,解稀水便5～6次/d。至当地医院就诊,查腹部超声示双肾实质回声增强 ...
ZHAI Chun-tao +6 more
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