Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1002/humu.24182 http://scihub22266oqcxt.onion/10.1002/humu.24182 33600043!8248058!33600043     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=33600043&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215       Hum+Mutat 2021 ; 42 (4): 473-486 Nephropedia Template TP {{tp|p=33600043|t=2021. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) |pdf=|usr=}}{{33600043}} gab.com Text The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=33600043 #FOAvip Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hindering early recognition of patients. In this study, we established the largest cohort of HSMR to date, aiming to improve recognition and diagnosis of this complex disorder. Eleven novel variants in CNNM2 were identified in nine single sporadic cases and in two families with suspected HSMR syndrome. (25) Mg(2+) uptake assays demonstrated loss-of-function in seven out of nine variants in CNNM2. Interestingly, the pathogenic mutations resulted in decreased plasma membrane expression. The phenotype of those affected by pathogenic CNNM2 mutations was compared with five previously reported cases of HSMR. All patients suffered from hypomagnesemia (0.44-0.72 mmol/L), which could not be fully corrected by Mg(2+) supplementation. The majority of patients (77%) experienced generalized seizures and exhibited mild to moderate intellectual disability and speech delay. Moreover, severe obesity was present in most patients (89%). Our data establish hypomagnesemia, seizures, intellectual disability, and obesity as hallmarks of HSMR syndrome. The assessment of these major features offers a straightforward tool for the clinical diagnosis of HSMR. Twit Text FOAVip The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=33600043 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=33600043 #FOAvip English Wikipedia <ref>{{Cite pmid|33600043}}</ref> The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) #MMPMID33600043 Franken GAC; Muller D; Mignot C; Keren B; Levy J; Tabet AC; Germanaud D; Tejada MI; Kroes HY; Nievelstein RAJ; Brimble E; Ruzhnikov M; Claverie-Martin F; Szczepanska M; Cuk M; Latta F; Konrad M; Martinez-Cruz LA; Bindels RJM; Hoenderop JGJ; Schlingmann KP; de Baaij JHF Hum Mutat 2021[Apr]; 42 (4): 473-486 PMID33600043show ga Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hindering early recognition of patients. In this study, we established the largest cohort of HSMR to date, aiming to improve recognition and diagnosis of this complex disorder. Eleven novel variants in CNNM2 were identified in nine single sporadic cases and in two families with suspected HSMR syndrome. (25) Mg(2+) uptake assays demonstrated loss-of-function in seven out of nine variants in CNNM2. Interestingly, the pathogenic mutations resulted in decreased plasma membrane expression. The phenotype of those affected by pathogenic CNNM2 mutations was compared with five previously reported cases of HSMR. All patients suffered from hypomagnesemia (0.44-0.72 mmol/L), which could not be fully corrected by Mg(2+) supplementation. The majority of patients (77%) experienced generalized seizures and exhibited mild to moderate intellectual disability and speech delay. Moreover, severe obesity was present in most patients (89%). Our data establish hypomagnesemia, seizures, intellectual disability, and obesity as hallmarks of HSMR syndrome. The assessment of these major features offers a straightforward tool for the clinical diagnosis of HSMR. |*Cation Transport Proteins/genetics[MESH] |*Intellectual Disability/diagnosis/genetics[MESH] |Cyclins/genetics[MESH] |Heterozygote[MESH] |Humans[MESH] |Mutation[MESH]The phenotypic and genetic spectrum of patients with heterozygous muta(epmc).pdf DeepDyve Pubget Overpricing