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ProteomicsBiallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia by impairing autophagy
Neurodevelopmental disorders have great clinical and genetic heterogeneity and are known to arise from dysfunction in components of diverse cellular pathways, the precise pathomechanism for the majority however remains elusive. We studied five patients from three unrelated families originating from ...
ORGANISM(S): Homo sapiens (Human) 
2024-10-17 | PXD044735 | Pride
Microcephaly Autophagy Zftraf1 
ProteomicsDe novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
Main purpose of the project is to delineate the consequences of de novo variants identified in patients manifesting intellectual disability-craniodigital syndrome. To this end, we investigated the effects of mutated CK2β by performing phosphor proteome profiling of patient derived LCLs along with th...
ORGANISM(S): Homo sapiens (Human) 
2022-05-04 | PXD029983 | Pride
Csnk2b Ck2β and ck2 
ProteomicsDe novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
Main purpose of the project is to delineate the consequences of de novo variants identified in patients manifesting intellectual disability-craniodigital syndrome. By employing pulldown assay coupled with mass spectrometry, we investigated the novel binding partners of CK2β and tried to find the imp...
ORGANISM(S): Homo sapiens (Human) 
2022-05-04 | PXD029970 | Pride
Csnk2b Ck2β and ck2 
UnknownGlobal age-sex-specific all-cause mortality and life expectancy estimates for 204 countries and territories and 660 subnational locations, 1950-2023: a demographic analysis for the Global Burden of Disease Study 2023.
Not available
S-EPMC12535839 | biostudies-literature
UnknownBurden of 375 diseases and injuries, risk-attributable burden of 88 risk factors, and healthy life expectancy in 204 countries and territories, including 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.
Not available
S-EPMC12535840 | biostudies-literature
UnknownChallenges of one-year longitudinal follow-up of a prospective, observational cohort study using an anonymised database: recommendations for trainee research collaboratives.
Not available
S-EPMC6909648 | biostudies-literature
UnknownImpact of postoperative acute kidney injury in patients undergoing major gastrointestinal surgery on 1-year survival and renal outcomes: a national multicentre cohort study.
Not available
S-EPMC8759520 | biostudies-literature
UnknownGlobal burden of 292 causes of death in 204 countries and territories and 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.
Not available
S-EPMC12535838 | biostudies-literature
UnknownValidation of the OAKS prognostic model for acute kidney injury after gastrointestinal surgery.
Not available
S-EPMC8855527 | biostudies-literature
UnknownSARS-CoV-2 infection and venous thromboembolism after surgery: an international prospective cohort study.
Not available
S-EPMC8652887 | biostudies-literature
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