Results 41 to 50 of about 3,478,892 (251)

Multi‐regional Organoid Biobank Reveals FAK‐ACSL1‐Driven Doxorubicin‐Resistance and Predictive Biomarkers in Breast Cancer

open access: yesAdvanced Science, EarlyView.
This study established a high‐quality organoid biobank derived from 68 tumor sites across 50 Chinese patients, elucidated the drug sensitivity‐based molecular subtyping in breast cancer, and revealed a novel mechanism of drug resistance mediated by the FAK‐ACSL1 pathway.
Hao Xu   +10 more
wiley   +1 more source

PAHG: the database of human multi-gene families

open access: yesBMC Genomic Data
Background In the early vertebrate history, gene duplications, including single-gene, segmental-gene (SSD), and whole-genome duplication (WGD), formed multigene families.
Ramsha Azhar   +8 more
doaj   +1 more source

Accessing the Variability of Multicopy Genes in Complex Genomes using Unassembled Next-Generation Sequencing Reads: The Case of Trypanosoma cruzi Multigene Families

open access: yesmBio, 2022
Repetitive elements cause assembly fragmentation in complex eukaryotic genomes, limiting the study of their variability. The genome of Trypanosoma cruzi, the parasite that causes Chagas disease, has a high repetitive content, including multigene families.
João Luís Reis-Cunha   +15 more
doaj   +1 more source

Training & assessment [PDF]

open access: yes, 2014
Contents: Specialisation and training - Pierre MalliaJournal of the Malta College of Family Doctors The mission of the Journal of the Malta College of Family Doctors (JMCFD) is to deliver accurate, relevant and inspiring research, continued medical ...
Mallia, Pierre   +1 more
core  

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila   +3 more
wiley   +1 more source

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

open access: yesCase Reports in Neurological Medicine, 2020
Some causes of spastic paraplegia are treatable and many are not. Diagnostic work-up to determine the etiology can be costly and invasive. Here we report the case of a man with slowly progressive spastic paraparesis.
Nathaniel M. Robbins   +4 more
doaj   +1 more source

JMCFD [PDF]

open access: yes, 2013
Contents: Accreditation by the Royal College of General Practitioners - Pierre Mallia; MCFD Education secretariat - Doreen CassarThe mission of the Journal of the Malta College of Family Doctors (JMCFD) is to deliver accurate, relevant and inspiring ...
Mallia, Pierre   +2 more
core  

Recent Advances in Virus–Host Interactions, Antiviral Bioactive Compounds, and Breeding for Disease Resistance of Porcine Epidemic Diarrhea Virus

open access: yesAnimal Research and One Health, EarlyView.
Basic research on the PEDV infection cycle and virus–host interactions advances the development of anti‐PEDV drugs and disease‐resistant breeding and helps strengthen disease prevention and control while reducing economic losses in the swine industry.
Heyong Wu   +8 more
wiley   +1 more source

Evolutionary Dynamics of the Repetitive DNA in the Karyotypes of Pipa carvalhoi and Xenopus tropicalis (Anura, Pipidae)

open access: yesFrontiers in Genetics, 2020
The large amphibian genomes contain numerous repetitive DNA components that have played an important role in the karyotypic diversification of this vertebrate group.
Michelle Louise Zattera   +6 more
doaj   +1 more source

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