Author(s): Sandkuhler SE; Youngs KS; Gottipalli O; Owlett LD; Bandora MB; Naaz A; Kim E; Wang L; Wojtovich A; Gupta V; Sacher M; Mackenzie SJ;

Mutations in the TANGO2 gene are associated with a severe neurometabolic disorder in humans, often presenting with life-threatening metabolic crisis. However, the function of TANGO2 protein remains unknown. It has recently been proposed that TANGO2 transports heme within and between cells, from a ...

Article GUID: 41504601

Author(s): Won Kang JR; Kim YJ; Skead K; Soave D; Evans J; Bruat V; Harwood MP; Morris Q; Matovu E; Mulindwa J; Noyes H; McLeod A; Hazelhurst S; Lombard Z; Ramsay M; Fave MJ; Awadalla P;

Clonal hematopoiesis, through the age-associated accumulation of somatic mutations in blood, is strongly associated with hematological malignancies and other chronic diseases. These mutations have largely been characterized in individuals of European ancestry or environments, and consequently, it ...

Article GUID: 41282824

Author(s): Muffels IJJ; Waterham HR; D' Alessandro G; Zagnoli-Vieira G; Sacher M; Lefeber DJ; Van der Vinne C; Roifman CM; Gassen KLI; Rehmann H; Van Haaften-Visser DY; Nieuwenhuis ESS; Jackson SP; Fuchs SA; Wijk F; van Hasselt P;

Background: Deciphering variants of uncertain significance (VUS) represents a major diagnostic challenge, partially due to the lack of easy-to-use and versatile cellular readouts that aid the interpretation of pathogenicity and pathophysiology. To address this challenge, we propose a high-through ...

Article GUID: 39920830

Author(s): Bernos TA; Gibelli J; Michaelides S; Won H; Jeon HB; Marin K; Boguski DA; Janjua MY; Gallagher CP; Howland KL; Fraser DJ;

Intraspecific variation is important for species' long-term persistence in changing environments. Conservation strategies targeting intraspecific variation often rely on the identification of management or policy units below the species level based on biological differences among populations. ...

Article GUID: 39730611

Author(s): Kuzmin E; Baker TM; Lesluyes T; Monlong J; Abe KT; Coelho PP; Schwartz M; Del Corpo J; Zou D; Morin G; Pacis A; Yang Y; Martinez C; Barber J; Kuasne H; Li R; Bourgey M; Fortier AM; Davison PG; Omeroglu A; Guiot MC; Morris Q; Kleinman CL; ...

The basal breast cancer subtype is enriched for triple-negative breast cancer (TNBC) and displays consistent large chromosomal deletions. Here, we characterize evolution and maintenance of chromosome 4p (chr4p) loss in basal breast cancer. Analysis of The Cancer Genome Atlas data shows recurrent ...

Article GUID: 38517886

Author(s): Zarei Ghobadi M; Teymoori-Rad M; Selvaraj G; Wei DQ;

No abstract available

Article GUID: 37475870

Author(s): O' Malley MA; Walsh DA;

The 'principle of microbial infallibility' was a mainstay of microbial physiology and environmental microbiology in earlier decades. This principle asserts that wherever there is an energetic gain to be made from environmental resources, microorganisms will find a way to take advantage of the situation. Although previously disputed, this claim was ...

Article GUID: 34160589

Author(s): Lismer A; Lambrot R; Lafleur C; Dumeaux V; Kimmins S;

In the field of epigenetic inheritance, delineating molecular mechanisms implicated in the transfer of paternal environmental conditions to descendants has been elusive. This protocol details how to track sperm chromatin intergenerationally. We describe mouse model design to probe chromatin states in single mouse sperm and techniques to assess pre-implant ...

Article GUID: 34159325

Author(s): Ramachandran A; McLatchie S; Walsh DA;

Bacteria inhabiting polar oceans, particularly the Arctic Ocean, are less studied than those at lower latitudes. Discovering bacterial adaptations to Arctic Ocean conditions is essential for understanding responses to the accelerated environmental changes occurring in the North. The Methylophilaceae are emerging as a model for investigating the genomic ba ...

Article GUID: 34154421

Author(s): Evdokias G; Semper C; Mora-Ochomogo M; Di Falco M; Nguyen TTM; Savchenko A; Tsang A; Benoit-Gelber I;

Previously, DNA microarrays analysis showed that, in co-culture with Bacillus subtilis, a biosynthetic gene cluster anchored with a nonribosomal peptides synthetase of Aspergillus niger is downregulated. Based on phylogenetic and synteny analyses, we show here that this gene cluster, NRRL3_00036- ...

Article GUID: 34064722

Author(s): Hoxhaj I, Tognetto A, Acampora A, Stojanovic J, Boccia S

The continuous development and use of genomic sequencing requires healthcare professionals to constantly integrate these advancements into their clinical practice. There is a documented lack of cancer genomics contents in the teaching and learning programs. We aimed to identify the core competencies in cancer genomics for non-genetic healthcare profession ...

Article GUID: 33442861