Results 51 to 60 of about 1,113,115 (292)

Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits

Cell Reports, 2023
Summary: Phenotypic heterogeneity in monogenic neurodevelopmental disorders can arise from differential severity of variants underlying disease, but how distinct alleles drive variable disease presentation is not well understood.
Diana C. Beard, Xiyun Zhang, Dennis Y. Wu, Jenna R. Martin, Alyssa Erickson, Jane Valeriane Boua, Nicole Hamagami, Raylynn G. Swift, Katherine B. McCullough, Xia Ge, Austin Bell-Hensley, Hongjun Zheng, Cory W. Palmer, Nicole A. Fuhler, Austin B. Lawrence, Cheryl A. Hill, Thomas Papouin, Kevin K. Noguchi, Audrey McAlinden, Joel R. Garbow, Joseph D. Dougherty, Susan E. Maloney, Harrison W. Gabel   +22 more
doaj   +1 more source

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Design and analysis strategies for robust microbiome ageing research

FEBS Letters, EarlyView.
The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an
Mark Olenik, İsmail Güderer, Yi Wang, Tayyaba Alvi, Prasoon Pandey, Handan Melike Dönertaş   +5 more
wiley   +1 more source

Genotypic and phenotypic heterogeneity in familial microcoria [PDF]

British Journal of Ophthalmology, 2004
To describe the clinical features and genetic findings in two families presenting with microcoria inherited as an autosomal dominant trait.Both affected and unaffected members of two families displaying familial microcoria were examined. Flash photography or infrared pupillography were used to assess pupils, and a full ophthalmic examination including ...
F D, Bremner, H, Houlden, S E, Smith
openaire   +2 more sources

Reconstructing enzyme evolution by protein engineering

FEBS Letters, EarlyView.
Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...
Lukas Drexler, Markus R. Busch, Reinhard Sterner   +2 more
wiley   +1 more source

Decoding the dynamic extracellular matrix in cancer—3D models and bioscaffolds rewire the rules of tumor progression

FEBS Letters, EarlyView.
Cancer progression is regulated by the dynamic matrix code of the tumor microenvironment, which influences cellular behavior and disease development. Importantly, matrix remodeling in three‐dimensional cancer models more accurately reflects in vivo conditions compared to conventional two‐dimensional systems.
Sylvia Mangani, Konstantinos Spanopoulos, Zoi Piperigkou, Nikos K. Karamanos   +3 more
wiley   +1 more source

Phenotypic heterogeneity of genomically-diverse isolates of Streptococcus mutans. [PDF]

PLoS ONE, 2013
High coverage, whole genome shotgun (WGS) sequencing of 57 geographically- and genetically-diverse isolates of Streptococcus mutans from individuals of known dental caries status was recently completed. Of the 57 sequenced strains, fifteen isolates, were
Sara R Palmer, James H Miller, Jacqueline Abranches, Lin Zeng, Tristan Lefebure, Vincent P Richards, José A Lemos, Michael J Stanhope, Robert A Burne   +8 more
doaj   +1 more source

Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential

FEBS Letters, EarlyView.
Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta, Hari Baskar Balasubramanian, Amir Pasokh, Marietta Zille   +3 more
wiley   +1 more source

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Global Medical Genetics
Introduction ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation–contraction of skeletal muscles.
Dipti Baskar, Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Gautham Arunachal, Ramya Sukrutha, Mainak Bardhan, Akshata Huddar, Gopikrishnan Unnikrishnan, Girish Baburao Kulkarni, Yasha T. Chickabasaviah, Rashmi Santhosh Kumar, Atchayaram Nalini, Saraswati Nashi   +13 more
doaj   +1 more source

Liver organoids: modelling complexity in homeostasis and disease

FEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source