Results 51 to 60 of about 1,631,641 (306)

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia

iScience, 2022
Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du, Fan Li, Linyi Li, Yu Wang, Jianping Li, Ya Yang, Long Jiang, Luya Wang, Yanwen Qin   +8 more
doaj   +1 more source

Pediatric Oncology Nursing Competencies in Latin America and the Caribbean: A Scoping Review to Inform Practice, Education, and Research

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Nurses are central to cancer care for children and adolescents, yet no comprehensive synthesis has defined essential core competencies for pediatric oncology nursing (PON) practice internationally, particularly in Latin America and the Caribbean (LAC).
Luís Carlos Lopes‐Júnior, Edmara Bazoni Soares Maia, Soad Fuentes‐Alabí, Courtney E. Sullivan, Monnie Abraham, Mauricio Maza, Liliana Vásquez Ponce, Regina Aparecida Garcia Lima   +7 more
wiley   +1 more source

Conflation of Short Identity-by-Descent Segments Bias Their Inferred Length Distribution

G3: Genes, Genomes, Genetics, 2016
Identity-by-descent (IBD) is a fundamental concept in genetics with many applications. In a common definition, two haplotypes are said to share an IBD segment if that segment is inherited from a recent shared common ancestor without intervening ...
Charleston W. K. Chiang, Peter Ralph, John Novembre   +2 more
doaj   +1 more source

A Window on the Genetics of Human Speech: The FOXP2 Gene [PDF]

, 2007
The development of human speech seems to be a species-specific and genetically determined capacity and is considered an extremely important step in the rise of modern humans, human culture and civilisation.
Barabás, Katalin, Mink, Mátyás, Solymosi, Mária Ágnes, Szűcs, Edit   +3 more
core  

Integrating the landscape epidemiology and genetics of RNA viruses: rabies in domestic dogs as a model [PDF]

, 2012
Landscape epidemiology and landscape genetics combine advances in molecular techniques, spatial analyses and epidemiological models to generate a more real-world understanding of infectious disease dynamics and provide powerful new tools for the study of
Anderson, Cross, Cullingham, D. L. HORTON, Dietzschold, Eng, K. BRUNKER, K. HAMPSON, Knobel, McCallum, R. BIEK, Sharma, Swanepoel, Wandeler, Weiss, Windiyaningsih, Zanoni   +16 more
core   +2 more sources

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel, Patricia Pastura, Joshua P. Scallan, Timothy D. Le Cras   +3 more
wiley   +1 more source

Burden of Mendelian disorders in a large Middle Eastern biobank

Genome Medicine
Background Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies.
Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro   +20 more
doaj   +1 more source

Prevalence and Trajectory of Household Material Hardship Among Children With Advanced Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Families of children with advanced cancer living in poverty experience inferior outcomes including poor parent mental health and worse child quality of life. Household material hardship (HMH: food, housing, transportation, and/or utility insecurity) is a modifiable poverty exposure—and potential intervention target—that ...
Sarah Wright, Morgan A. Paul, Selena Murcia Mendez, Emily Jones, Lucille Lokko, Chelsea Heneghan, Nicholas Purol, Morgan Arnold, Rahela Aziz‐Bose, Colleen A. Kelly, Sandi L. Pruitt, Joanne Wolfe, Kira Bona, Puja J. Umaretiya   +13 more
wiley   +1 more source

GoM DE: interpreting structure in sequence count data with differential expression analysis allowing for grades of membership

Genome Biology, 2023
Parts-based representations, such as non-negative matrix factorization and topic modeling, have been used to identify structure from single-cell sequencing data sets, in particular structure that is not as well captured by clustering or other ...
Peter Carbonetto, Kaixuan Luo, Abhishek Sarkar, Anthony Hung, Karl Tayeb, Sebastian Pott, Matthew Stephens   +6 more
doaj   +1 more source

Human Genetics [PDF]

, 1987
http://deepblue.lib.umich.edu/bitstream/2027.42/88819/1/1987_Human_Genetics_3-5-87 ...
Duderstadt, James J.
core