Results 71 to 80 of about 2,909,871 (334)

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

LEFT VENTRICULAR REMODELING IN HEART FAILURE (PART ІI): PHENOTYPIC HETEROGENEITY AS A RATIONALE FOR PERSONALIZED PATIENTS` MANAGEMENT

Клінічна та профілактична медицина, 2023
Aim: to provide a literature review of the current conсepts on phenotypic heterogeneity of left ventricular (LV) remodeling in heart failure (HF), and highlight the significance of such a diversity for an implementation of personalized patients ...
T.Ya. Chursina, A.M. Kravchenko, K.O. Mikhaliev   +2 more
doaj   +1 more source

The cardiovascular phenotype of adult patients with phenylketonuria [PDF]

, 2019
BACKGROUND: Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown.
Azabdaftari, Aline, Giet, Markus van der, Hennermann, Julia B., Plöckinger, Ursula, Querfeld, Uwe, Schuchardt, Mirjam   +5 more
core   +1 more source

By dawn or dusk—how circadian timing rewrites bacterial infection outcomes

FEBS Letters, EarlyView.
The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo, Catherine S. Palmer, Jacqueline M. Kimmey   +2 more
wiley   +1 more source

Quantitative dissection of sexual dimorphism in mice through Y-linked gene knockouts and multivariate phenotyping

Scientific Reports
Sexual dimorphism (SDM) is regulated by sex chromosomes, yet the specific contribution of individual genes remains unclear. To address this, we conducted a comprehensive phenotyping analysis to investigate the roles of Y chromosome-linked genes in SDM ...
Nobuhiko Tanaka, Kento Miura, Ai Ozaki, Yasuyo Kozawa, Masaru Tamura, Atsuo Ogura, Shogo Matoba   +6 more
doaj   +1 more source

Microglia-derived microvesicles affect microglia phenotype in glioma [PDF]

, 2019
Extracellular-released vesicles (EVs), such as microvesicles (MV) and exosomes (Exo) provide a new type of inter-cellular communication, directly transferring a ready to use box of information, consisting of proteins, lipids and nucleic acids.
Alfonso Grimaldi, Angelo Sarra, Barbara Ruzicka, Carmela Serpe, Cristina Limatola, Cristina Limatola, Francesca Guerrieri, Giancarlo Ruocco, Giuseppe Familiari, Giuseppe Rubens Pascucci, Giuseppina Chece, Michela Relucenti, Myriam Catalano, Myriam Catalano, Valentina Nigro   +14 more
core   +5 more sources

Molecular bases of circadian magnesium rhythms across eukaryotes

FEBS Letters, EarlyView.
Circadian rhythms in intracellular [Mg2+] exist across eukaryotic kingdoms. Central roles for Mg2+ in metabolism suggest that Mg2+ rhythms could regulate daily cellular energy and metabolism. In this Perspective paper, we propose that ancestral prokaryotic transport proteins could be responsible for mediating Mg2+ rhythms and posit a feedback model ...
Helen K. Feord, Gerben van Ooijen
wiley   +1 more source

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Billingsley, G., Graw, Jochen, Heon, E., Illig, T., Klopp, N., Rudolph, G., Wjst, M.   +6 more
core   +1 more source