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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. ...
Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) …
Rats as sources of multidrug-resistant Enterobacteriaceae in animal production environments.
Dominguez JE, Rosario L, Juliana S, Redondo LM, Chacana PA, Regino C, Fernández Miyakawa ME. Dominguez JE, et al. Zoonoses Public Health. 2023 Nov;70(7):627-635. doi: 10.1111/zph.13071. Epub 2023 Jul 4. Zoonoses Public Health. 2023. PMID: 37403535
One of the E. coli obtained showed resistance to colistin and harboured the mcr-1 gene, demonstrated by PCR and conjugation. In two ESBL-producing Salmonella isolated from rats, CTX-M-2 genes were responsible for the observed resistance to third-generation cephalosporins. …
One of the E. coli obtained showed resistance to colistin and harboured the mcr-1 gene, demonstrated by PCR and conjugation. In two E …
Multiresistant Bacteria Isolated from Activated Sludge in Austria.
Galler H, Feierl G, Petternel C, Reinthaler FF, Haas D, Habib J, Kittinger C, Luxner J, Zarfel G. Galler H, et al. Int J Environ Res Public Health. 2018 Mar 9;15(3):479. doi: 10.3390/ijerph15030479. Int J Environ Res Public Health. 2018. PMID: 29522474 Free PMC article.
Three multiresistant pathogens-extended spectrum beta-lactamase (ESBL)-harbouring Enterobacteriaceae (Gram negative bacilli), methicillin resistant Staphylococcus aureus (MRSA) and vancomycin resistant Enterococci (VRE)-were chosen for screening in a state of the art waste …
Three multiresistant pathogens-extended spectrum beta-lactamase (ESBL)-harbouring Enterobacteriaceae (Gram negative bacilli), methici …
Histopathological survey of parasites harboured by the clam Tawera elliptica (Lamarck, 1818) from Chiloe Archipelago, southeastern Pacific.
Lohrmann KB, Rojas R, Valdivia AL, Abarca A, Durán LR, Barría C, Oliva D. Lohrmann KB, et al. J Invertebr Pathol. 2022 Nov;195:107847. doi: 10.1016/j.jip.2022.107847. Epub 2022 Nov 11. J Invertebr Pathol. 2022. PMID: 36375617
Tawera elliptica (commonly known as "Almeja Juliana", is a venerid clam that inhabits sandy bottoms and is distributed from Valparaiso on the Pacific coast up to the Mar del Plata area along the Atlantic coast. ...
Tawera elliptica (commonly known as "Almeja Juliana", is a venerid clam that inhabits sandy bottoms and is distributed from Valparais …
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
Maharaj AV, Cottrell E, Thanasupawat T, Joustra SD, Triggs-Raine B, Fujimoto M, Kant SG, van der Kaay D, Clement-de Boers A, Brooks AS, Aguirre GA, Martín Del Estal I, Castilla de Cortázar Larrea MI, Massoud A, van Duyvenvoorde HA, De Bruin C, Hwa V, Klonisch T, Hombach-Klonisch S, Storr HL. Maharaj AV, et al. JCI Insight. 2024 Feb 20;9(6):e169425. doi: 10.1172/jci.insight.169425. JCI Insight. 2024. PMID: 38516887 Free PMC article.
Two Hmga2-knockin mouse models were generated. Five clinical SRS patients harbored HMGA2 variants with differing functional impacts: 2 stop-gain nonsense variants (c.49G>T, c.52C>T), c.166A>G missense variant, and 2 frameshift variants (c.144delC, c.145delA) leadi …
Two Hmga2-knockin mouse models were generated. Five clinical SRS patients harbored HMGA2 variants with differing functional impacts: …
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. Fountain MD, et al. Genet Med. 2017 Jan;19(1):45-52. doi: 10.1038/gim.2016.53. Epub 2016 May 19. Genet Med. 2017. PMID: 27195816 Free PMC article.
METHODS: Here we report a total of 18 newly identified individuals with Schaaf-Yang syndrome from 14 families, including 1 family with 3 individuals found to be affected with a truncating variant of MAGEL2, 11 individuals who are clinically affected but were not tested molecularl …
METHODS: Here we report a total of 18 newly identified individuals with Schaaf-Yang syndrome from 14 families, including 1 family with 3 ind …
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Quaio CRDC, Obando MJR, Perazzio SF, Dutra AP, Chung CH, Moreira CM, Novo Filho GM, Sacramento-Bobotis PR, Penna MG, Souza RRF, Cintra VP, Carnavalli JEP, Silva RAD, Santos MNP, Paixão D, Baratela WADR, Olivati C, Spolador GM, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, Ferreira ENE, Mitne-Neto M, Kim CA. Quaio CRDC, et al. Genet Mol Biol. 2021 Sep 29;44(4):20210061. doi: 10.1590/1678-4685-GMB-2021-0061. eCollection 2021. Genet Mol Biol. 2021. PMID: 34609444 Free PMC article.
For this purpose, we simulated a comparison between different targeted gene panels and ES: the list of genes harboring clinically relevant variants from 158 patients was used to estimate the theoretical rate of diagnoses missed by NGS panels from 53 different NGS panels fr …
For this purpose, we simulated a comparison between different targeted gene panels and ES: the list of genes harboring clinically rel …
Consistent prevalence of asymptomatic infections in malaria endemic populations in Colombia over time.
Vásquez-Jiménez JM, Arévalo-Herrera M, Henao-Giraldo J, Molina-Gómez K, Arce-Plata M, Vallejo AF, Herrera S. Vásquez-Jiménez JM, et al. Malar J. 2016 Feb 6;15:70. doi: 10.1186/s12936-016-1124-x. Malar J. 2016. PMID: 26852321 Free PMC article.
Although these methods contribute significantly to malaria control/elimination, they are not suitable for detecting the significant proportion of asymptomatic subjects harbouring low levels of parasitaemia, which endure untreated as potential reservoirs for transmission. . …
Although these methods contribute significantly to malaria control/elimination, they are not suitable for detecting the significant proporti …
Antibiotic resistance profile of wastewater treatment plants in Brazil reveals different patterns of resistance and multi resistant bacteria in final effluents.
Machado EC, Freitas DL, Leal CD, de Oliveira AT, Zerbini A, Chernicharo CA, de Araújo JC. Machado EC, et al. Sci Total Environ. 2023 Jan 20;857(Pt 1):159376. doi: 10.1016/j.scitotenv.2022.159376. Epub 2022 Oct 12. Sci Total Environ. 2023. PMID: 36240935
Escherichia was predominant in RI (56/118); whilst in TE Escherichia (31/118) was followed by Bacillus (22/118), Shigella (14/118) and Enterococcus (14/118). Most of the isolates identified (370/394) harboured at least two ARGs and in over 80 % of the isolates, 4 or more A …
Escherichia was predominant in RI (56/118); whilst in TE Escherichia (31/118) was followed by Bacillus (22/118), Shigella (14/118) and Enter …
Genomic analysis reveals the potential for hydrocarbon degradation of Rhodopirellula sp. MGV isolated from a polluted Brazilian mangrove.
de Araujo JE, Taketani RG, Pylro VS, Leite LR, Pereira E Silva MC, Lemos LN, de Mello Lourenço MV, Andreote FD. de Araujo JE, et al. Braz J Microbiol. 2021 Sep;52(3):1397-1404. doi: 10.1007/s42770-021-00483-6. Epub 2021 Apr 14. Braz J Microbiol. 2021. PMID: 33852152 Free PMC article.
MGV very closely affiliated to species of the genus Rhodopirellula, harboring a genome with 7.16 Mbp and 55.3% of GC. The annotation of the 77 contigs resulted in 6.284 CDS, with a remarkable occurrence of sequences associated with aromatic carbon metabolism. ...
MGV very closely affiliated to species of the genus Rhodopirellula, harboring a genome with 7.16 Mbp and 55.3% of GC. The annotation …
14 results