Rami Yair Tshuva

ORCID: 0000-0002-7032-2107
Publications
Citations
Views
---
Saved
---
About
Contact & Profiles
Research Areas
  • 3D Printing in Biomedical Research
  • RNA modifications and cancer
  • Pluripotent Stem Cells Research
  • RNA Research and Splicing
  • Epigenetics and DNA Methylation
  • Growth Hormone and Insulin-like Growth Factors
  • Cell Image Analysis Techniques
  • Microtubule and mitosis dynamics
  • Thyroid Cancer Diagnosis and Treatment
  • Ion channel regulation and function
  • Cancer Cells and Metastasis
  • Renal and related cancers
  • Neuroscience and Neuropharmacology Research
  • Ion Channels and Receptors

Weizmann Institute of Science
2017-2024

Meir Medical Center
2017

Brain size and cellular heterogeneity are tightly regulated by species-specific proliferation differentiation of multipotent neural progenitor cells (NPCs). Errors in this process among the mechanisms primary hereditary microcephaly (MCPH), a group disorders characterized reduced brain intellectual disability. Biallelic CIT missense variants that disrupt kinase function (CITKI/KI) frameshift loss-of-function (CITFS/FS) genetic basis for MCPH17; however, catalytic activity development NPC...

10.1172/jci175435 article EN cc-by Journal of Clinical Investigation 2024-09-24

Abstract PRDM16 is a dynamic transcriptional regulator of various stem cell niches, including adipocytic, hematopoietic, cardiac progenitors, and neural cells. has been suggested to contribute 1p36 deletion syndrome, one the most prevalent subtelomeric microdeletion syndromes. We report patient with de novo nonsense mutation in coding sequence, accompanied by lissencephaly microcephaly features. Human cells were genetically modified mimic this mutation, generating cortical organoids that...

10.1093/oons/kvae001 article EN cc-by Oxford Open Neuroscience 2024-01-01

Abstract Brain organoids are an emerging technique for studying human neurodevelopment in vitro, with biomedical implications. However, three‐dimensional tissue culture poses several challenges, including lack of nutrient exchange at the organoid core and limited imaging accessibility whole organoids. Here we present a method culturing micro‐fabricated device that enables situ real‐time over weeks efficient by diffusion. Our on‐chip approach offers means dynamics development, cell...

10.1002/cpcb.62 article EN Current Protocols in Cell Biology 2018-09-21

PRDM16 is a dynamic transcriptional regulator of various stem cell niches, including adipocytic, hematopoietic, cardiac progenitors, and neural cells. has been suggested to contribute 1p36 deletion syndrome, one the most prevalent subtelomeric microdeletion syndromes. We report patient with de novo nonsense mutation in coding sequence, accompanied by lissencephaly microcephaly features. Human cells were genetically modified mimic this mutation, generating cortical organoids that exhibited...

10.1101/2023.08.12.553065 preprint EN bioRxiv (Cold Spring Harbor Laboratory) 2023-08-12
Coming Soon ...