Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders DOI Creative Commons
Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena

и другие.

medRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Ноя. 6, 2024

Abstract Kidney anomalies (KA) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examined rare coding variants in 248 KA trios 1,742 singleton cases compared them to 22,258 controls. Diagnostic candidate diagnostic were detected 14.1% of cases. a significant enrichment damaging constrained genes expressed during development associated with other disorders, suggesting phenotype expansion. Consistent these data, 18% patients had neurodevelopmental or cardiac phenotypes. Extrarenal phenotypes higher burden variants. Statistical analyses identified 40 novel genes, 2 which confirmed as new genes: ARID3A NR6A1. This study suggests many yet-unidentified syndromes would be discoverable larger cohorts cross-phenotype analysis, leading clarification the genetic phenotypic spectrum disorders.

Язык: Английский

Three‐dimensional stem cell models of mammalian gastrulation DOI Creative Commons
David A. Turner, Alfonso Martínez Arias

BioEssays, Год журнала: 2024, Номер 46(12)

Опубликована: Авг. 28, 2024

Abstract Gastrulation is a key milestone in the development of an organism. It period cell proliferation and coordinated cellular rearrangement, that creates outline body plan. Our current understanding mammalian gastrulation has been improved by embryo culture, but there are still many open questions difficult to address because intrauterine embryos low number specimens. In case humans, additional difficulties associated with technical ethical challenges. Over last few years, pluripotent stem models being developed have potential become useful tools understand gastrulation. Here we review these special emphasis on gastruloids provide survey methods produce them robustly, their uses, relationship embryos, prospects as well limitations.

Язык: Английский

Процитировано

8

Stem cell culture conditions affect in vitro differentiation potential and mouse gastruloid formation DOI Creative Commons
Marloes Blotenburg,

Lianne Suurenbroek,

Daniel V. Bax

и другие.

PLoS ONE, Год журнала: 2025, Номер 20(3), С. e0317309 - e0317309

Опубликована: Март 26, 2025

Aggregating low numbers of mouse embryonic stem cells (mESCs) and inducing Wnt signalling generates ‘gastruloids’, self-organising complex structures that display an anteroposterior organisation cell types derived from all three germ layers. Current gastruloid protocols considerable heterogeneity between experiments in terms morphology, elongation efficiency, type composition. We therefore investigated whether altering the mESC pluripotency state would provide more consistent results. By growing lines two different genetic backgrounds intervals ESLIF 2i medium was modulated, culture as well resulting gastruloids were analysed. Microscopic analysis showed a pre-culture-specific effect on formation, aspect ratio reproducibility. RNA-seq start population confirmed short-term pulses modulate state, result cellular states. Since multiple epigenetic regulators detected among top differentially expressed genes, we further analysed genome-wide DNA methylation H3K27me3 distributions. observed differences conditions, most dominantly promoter regions developmental regulators. Lastly, when composition grown these pre-cultures, mESCs subjected to 2i-ESLIF preceding aggregation generated consistently, including mesodermal contributions compared ESLIF-only control. These results indicate optimisation allows modulation differentiation during formation.

Язык: Английский

Процитировано

1

Progress in understanding the vertebrate segmentation clock DOI
Akihiro Isomura, Ryoichiro Kageyama

Nature Reviews Genetics, Год журнала: 2025, Номер unknown

Опубликована: Март 4, 2025

Язык: Английский

Процитировано

0

Exploring the Effects of Changes in Dietary Protein Content on Naturally Aging Mice Based on Comprehensive Quantitative Scoring and Metabolomic Analysis DOI Open Access

Xiaohua Zheng,

Fan Zhou, Qinren Zhang

и другие.

Nutrients, Год журнала: 2025, Номер 17(9), С. 1542 - 1542

Опубликована: Апрель 30, 2025

During aging, protein nutrition has a bidirectional role in regulating healthy lifespan by modulating body metabolism and neurological function. However, the current "low-high" hypothesis on dynamics of requirements is mainly based male animal models, its applicability to female physiology (e.g., estrogen fluctuations) unclear. The present study aims fill gap demand naturally aging mice investigate effects different levels health status C57BL/6J at stages aging. In this study, four dietary interventions (high protein, HP; low LP; model test, MT; control, C) were evaluated constructing mouse three ages, 9 M (9 months), 16 (16 20 (20 which are approximately equivalent 34, 65, 78 years age humans, respectively, determine mice. quantitatively described behavioral, neuropathological, oxidative, inflammatory indices NMR metabolomics using Principal Component Analysis construct comprehensive quantitative scoring method. scores Fsum was highest HP group, lowest LP between MT group. intervention showed most significant improvement aged group M) mice, with 35.2% reduction avoidance latency (p < 0.01) 32.9% increase pyramidal cell density hippocampal CA1 region 0.05), while led cognitive decline an that prolonged 15.2% 0.05). Metabolomics analysis revealed samples all ages age-dependent metabolic re-adaptation: may reflect gut microbial rather than direct host TCA cycle activity, suggesting indirect association energy metabolism; enhanced degradation branched-chain amino acids (BCAAs) seen middle-aged M); acid biosynthesis predominant old M). Female have sustained neuromotor benefits high-protein diets stages, their differ significantly from those males. reveals critical gender factors nutritional strategies provides experimental basis for precise supplementation older women.

Язык: Английский

Процитировано

0

The proteomic landscape and temporal dynamics of mammalian gastruloid development DOI Creative Commons
Riddhiman K. Garge,

Valerie Lynch,

Rose Fields

и другие.

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Сен. 7, 2024

Gastrulation is the highly coordinated process by which early embryo breaks symmetry, establishes germ layers and a body plan, sets stage for organogenesis. As mammalian development challenging to study

Язык: Английский

Процитировано

1

Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders DOI Creative Commons
Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena

и другие.

medRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Ноя. 6, 2024

Abstract Kidney anomalies (KA) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examined rare coding variants in 248 KA trios 1,742 singleton cases compared them to 22,258 controls. Diagnostic candidate diagnostic were detected 14.1% of cases. a significant enrichment damaging constrained genes expressed during development associated with other disorders, suggesting phenotype expansion. Consistent these data, 18% patients had neurodevelopmental or cardiac phenotypes. Extrarenal phenotypes higher burden variants. Statistical analyses identified 40 novel genes, 2 which confirmed as new genes: ARID3A NR6A1. This study suggests many yet-unidentified syndromes would be discoverable larger cohorts cross-phenotype analysis, leading clarification the genetic phenotypic spectrum disorders.

Язык: Английский

Процитировано

0