Results 71 to 80 of about 717,864 (344)

The impact of SLCO1B1 genetic polymorphisms on neonatal hyperbilirubinemia: a systematic review with meta-analysis

Jornal de Pediatria (Versão em Português), 2013
Objective: To determine whether three variants (388 G>A, 521 T>C, and 463 C>A) of the solute carrier organic anion transporter family member 1B1 (SLCO1B1) are associated with neonatal hyperbilirubinemia.
Jiebo Liu, Jun Long, Shaofang Zhang, Xiaoyan Fang, Yuyuan Luo   +4 more
doaj   +1 more source

ACTA2 leukovasculopathy: A rare pediatric white matter disorder

Radiology Case Reports, 2020
A 3-year-old girl presented with ataxia, dilated pupils, and behavioral change prompting work up for stroke. Her medical history included chronic mydriasis and patent ductus arteriosus requiring aortoplasty.
Tonia M. Sabo, MD, Mathew A. Stokes, MD, Nishika Karbhari, MD, Daniel L. Veltkamp, MD, Cory M. Pfeifer, MD, MPH   +4 more
doaj   +1 more source

Bifurcation into functional niches in adaptation [PDF]

, 2004
One of the central questions in evolutionary biology concerns the dynamics of adaptation and diversification. This issue can be addressed experimentally if replicate populations adapting to identical environments Call be investigated in detail.
Adami, Christoph, White, Justin S.
core   +2 more sources

Correction: Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses

PLOS Genetics, 2019
[This corrects the article DOI: 10.1371/journal.pgen.1002653.].
Hauswirth, Regula, Haase, Bianca, Blatter, Marlis, Brooks, Samantha A, Burger, Dominik Cyrill, Drögemüller, Cord, Gerber, Vinzenz, Henke, Diana, Janda, Jozef, Jude, Rony, Magdesian, K Gary, Matthews, Jacqueline M, Poncet, Pierre-André, Svansson, Vilhjálmur, Tozaki, Teruaki, Wilkinson-White, Lorna, Penedo, M Cecilia T, Rieder, Stefan, Leeb, Tosso   +18 more
openaire   +4 more sources

MAP1B mutations cause intellectual disability and extensive white matter deficit [PDF]

Nature Communications, 2018
AbstractDiscovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large
Gudmundur L. Norddhal, Unnur Unnsteinsdottir, Gudrun A. Jonsdottir, Evald Saemundsen, Magnus I. Magnusson, Gardar Sveinbjornsson, Patrick Sulem, Andres Ingason, Asgeir Sigurdsson, Lina Jonsson, Lina Jonsson, Adalbjorg Jonasdottir, Valgerdur K. Eiriksdottir, Hreinn Stefansson, G. Bragi Walters, G. Bragi Walters, Arni F. Gunnarsson, Stacy Steinberg, Kari Stefansson, Kari Stefansson, Amy L. Lee, Magnus O. Ulfarsson, Magnus O. Ulfarsson, Omar Gustafsson, Askell Love, Daniel F. Gudbjartsson, Daniel F. Gudbjartsson, Muhammad Nawaz, Muhammad Nawaz, Aslaug Jonasdottir, Astros Skuladottir, Mike Frigge, Mark Zervas, Arna B. Agustsdottir   +33 more
openaire   +5 more sources

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

White-matter abnormalities in presymptomaticGRNandC9orf72mutation carriers

Brain Communications, 2022
AbstractA large proportion of familial frontotemporal dementia is caused by TAR DNA-binding protein 43 (transactive response DNA-binding protein 43 kDa) proteinopathies. Accordingly, carriers of autosomal dominant mutations in the genes associated with TAR DNA-binding protein 43 aggregation, such as Chromosome 9 open reading frame 72 (C9orf72) or ...
Hyunwoo Lee, Ian R A Mackenzie, Mirza Faisal Beg, Karteek Popuri, Rosa Rademakers, Dana Wittenberg, Ging-Yuek Robin Hsiung   +6 more
openaire   +3 more sources

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

Molecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez, Pablo Juanes‐Velasco, Marina L. García‐Vaquero, Conrad Droste, Alicia Landeira‐Viñuela, Miguel Alcoceba, Helena Fidalgo‐Gómez, Sara Misiego‐Herrero, Almudena Navarro‐Bailón, Mónica Baile, José M. Bastida, Jose Manuel Sanchez‐Santos, Rafael Góngora, Julia Almeida, Marcos Gonzalez‐Diaz, Alberto Orfao, Javier De Las Rivas, Manuel Fuentes   +17 more
wiley   +1 more source

A New DARS2 Mutation Discovered in an Adult Patient

Case Reports in Neurology, 2020
We report a case of an adult patient suffering from leukoencephalopathy with brainstem and spinal cord involvement and elevated white matter lactate (LBSL) caused by a DARS2 polymorphism.
Rosy N’Gbo N’Gbo Ikazabo, Christian Mostosi, Patrice Jissendi, Marie-Anne Labaisse, Isabelle Vandernoot   +4 more
doaj   +1 more source

Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data

Molecular Oncology, EarlyView.
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda   +12 more
wiley   +1 more source