Author details

Full Name

Bernardo Blanco-SÃ¡nchez

Affiliation

ORCID

Career Start Year

1991

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34450031	COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.	Am J Hum Genet	2021
32544203	yippee like 3Â (ypel3) is a novel gene required for myelinating and perineurial glia development.	PLoS Genet	2020
32376980	Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.	Genet Med	2020
33104717	Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.	PLoS Genet	2020
30287385	Cog4 is required for protrusion and extension of the epithelium in the developing semicircular canals.	Mech Dev	2019
30380418	Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins.	Cell Rep	2018
30290151	A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.	Am J Hum Genet	2018
28129854	Zebrafish models of human eye and inner ear diseases.	Methods Cell Biol	2017
27789622	Ligament versus bone cell identity in the zebrafish hyoid skeleton is regulated by mef2ca.	Development (Cambridge)	2016
27195754	Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination.	PLoS Genet	2016
24626987	Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis.	Dis Model Mech	2014
23792057	The impact of maternal anti-retroviral therapy on cytokine profile in the uninfected neonates.	Human Immunology	2013
23103487	The impact of pregnancy on the HIV-1-specific T cell function in infected pregnant women.	Clinical Immunology	2012
22922271	High IL-10 production by aged AIDS patients is related to high frequency of Tr-1 phenotype and low in vitro viral replication.	Clinical Immunology	2012
21558377	BMP signaling orchestrates photoreceptor specification in the zebrafish pineal gland in collaboration with Notch.	Development (Cambridge)	2011
21757509	Harmonin (Ush1c) is required in zebrafish MÃ¼ller glial cells for photoreceptor synaptic development and function.	Dis Model Mech	2011
20506187	Zebrafish sp7:EGFP: a transgenic for studying otic vesicle formation, skeletogenesis, and bone regeneration.	Genesis	2010
20440071	PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.	J Clin Invest	2010
10609880	Changes in several functions of murine peritoneal macrophages by N-acetylcysteine and thioproline ingestion. Comparative effect between two strains of mice.	BioFactors	1999
10609882	Effect of a diet supplemented with thioproline on murine macrophage function in a model of premature ageing.	BioFactors	1999
1892849	Structural basis for the inactivation of the P54 mutant of beta-lactamase from Staphylococcus aureus PC1.	Biochemistry	1991