Search filters

List of works by Jonathan Marquez

Blastula stage specification of avian neural crest

scientific article published on 11 October 2019

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

scientific article published on 16 November 2020

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

scientific article published on 06 July 2020

Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects

scientific article published on 01 February 2020

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

scientific article published on 27 July 2016

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

scientific article published on 17 July 2019

Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells

scientific article published in 2021

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

article

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

scientific article published on 31 August 2020

Nucleoporin NUP205 plays a critical role in cilia and congenital disease

scientific article published on 13 October 2020

Pax7 is regulated by cMyb during early neural crest development through a novel enhancer ⬇️

scientific article published on September 1, 2013

SUMOylation of Pax7 is essential for neural crest and muscle development.

scientific article published on 18 December 2012

Sequencing of Sclerosing Microcystic Adenocarcinoma Identifies Mutational Burden and Somatic Variants Associated With Tumorigenesis

scientific article published on 01 November 2020

Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis

scientific article published on 30 July 2019

Paulina is supported by:

About Paulina

Help