..., distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected] ABSTRACT Background Cystic kidney disease is common. Beyond autosomal dominant polycystic kidney disease (ADPKD), knowledge of other hereditary...

..., and/or eosinophilia (>5%) INR, international normalized ratio. Cases of possible severe DILI were further evaluated to identify events belonging to the following categories: ABSTRACT Background Approval of tolvaptan in the USA for the treatment of autosomal dominant polycystic kidney disease (ADPKD...

... a heterozygous ATP2A2 variant and autosomal dominant recurrent rhabdomyolysis. Both in vitro and in vivo studies provide evidence that the variant alters SERCA2 function causing abnormal intracellular Ca²⁺ homeostasis in skeletal muscle, resulting in rhabdomyolysis. The work...

...://creativecommons.org/licenses/by-nc/4.0/ ), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected] autosomal dominant polycystic kidney disease dialysis haemorrhagic stroke...

... Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract Context Osteopetrosis (OPT) is a rare skeletal disease characterized by high bone mass that has 2 major inheritance patterns: autosomal dominant osteopetrosis and autosomal recessive osteopetrosis (ARO). However...

.../ndt/pages/author_videos gfaf016Media1 6369826906112 ATP6V1B1 autosomal dominant deafness distal renal tubular acidosis dRTA Figure 1: Pedigrees of familial cases with the p.(Arg394Gln) variant. ( A–G) The pedigrees of the seven families with more than one member affected with dRTA...

..., the presence of a severe mutation did not impact renal survival. Conclusion Our results confirm that autosomal dominant Alport syndrome (ADAS) can lead to ESKD. We demonstrated that a glycine substitution involving the distal exons had a negative impact on renal survival in ADAS patients, probably due...

...% exhibited dysarthria. Our findings indicate that spinocerebellar ataxia 27B represents the predominant aetiology of autosomal dominant cerebellar ataxia in the Cypriot population, as this is the first dominant repeat expansion ataxia type detected in this population. Given our results and existing research...

...-clinical disease progression in mutation carriers after multiple comparisons correction. Our findings provide evidence that oscillatory slowing and functional connectivity differences occur before cognitive impairment in individuals with autosomal dominant mutations leading to early onset Alzheimer’s...

.../journals/pages/open_access/funder_policies/chorus/standard_publication_model ) ABSTRACT Background and hypothesis The levels of C5b-9, terminal products of complement activation, were significantly elevated in autosomal dominant polycystic kidney disease (ADPKD). However, the precise mechanisms by which...

.../pages/standard-publication-reuse-rights ) Abstract Context Genetic testing of the calcium-sensing receptor (CASR) gene is crucial for confirming diagnoses of familial hypocalciuric hypercalcemia type I (FHH1) and autosomal dominant hypocalcemia type I (ADH1). Therefore, we created a publicly...

.... ^{10 , 13-17} Similar alterations have been observed in sporadic and autosomal dominant Alzheimer’s disease (ADAD). ¹¹ Loss of small-world values can already be detected in cognitively normal individuals with amyloid-β (Aβ) aggregation. ^{10 , 18 , 19} Still, the biological...

...Diana Karpman; Martin L Lindström; Mattias Möller; Sofie Ivarsson; Ann-Charlotte Kristoffersson; Zivile Bekassy; Agnes B Fogo; Maria Elfving autosomal dominant tubulo-interstitial kidney disease kidney renal tubular dysgenesis renin SEC61A1 Graphical Abstract Graphical Abstract Abstract...

... and distributed under the terms of the Oxford University Press, Standard Journals Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract Context Autosomal dominant osteopetrosis (ADO) is a rare sclerotic bone disease characterized by impaired osteoclast activity...

... dystrophy. The proband has a heterozygous c.2492T>C, p.Leu831Pro variant in GUCY2D. (J) Montage fundoscopic images and OCT images of MEP_695’s right and left retinas. Family trees, retinal images, and associated variants for participants with likely autosomal dominant inherited retinal...

..., along with other complications such as vision loss and bone marrow suppression. However, ADO demonstrates widely varying severity and, although some have severe complications, up to one third of patients with such mutations appear to be unaffected carriers ( 1 , 2 ). Autosomal dominant osteopetrosis...

...:https://dbpia.nl.go.kr/journals/pages/open_access/funder_policies/chorus/standard_publication_model ) ABSTRACT Background Autosomal dominant Alport Syndrome (ADAS), also known as thin basement membrane disease (TBMD), is caused by pathogenic variants in the COL4A3 and COL4A4 genes. A cystic...

... resolves within 12 weeks of FCM administration. Here, we present a case of unusually prolonged hypophosphatemia that developed after treatment with FCM in a 39-year-old female with autosomal dominant polycystic kidney disease (ADPKD) but normal renal function. Workup was significant for low tubular...

... in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected] ABSTRACT Background Autosomal dominant polycystic kidney disease (ADPKD) has numerous extrarenal manifestations. Pericardial effusion (PE) may be an underrecognized...

... genetically screened 25 unrelated patients who had developed at least one AFF. Results We found a relatively high frequency (32.0%) of heterozygous rare variants inthe SLC34A1 and SLC9A3R1 genes, two genes whose heterozygous inactivating mutations have been respectively associated with autosomal dominant...