A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans
L Prokunina, C Castillejo-López, F Öberg… - Nature …, 2002 - nature.com
Systemic lupus erythematosus (SLE, OMIM 152700) is a complex autoimmune disease that
affects 0.05% of the Western population, predominantly women 1, 2, 3, 4. A number of …
affects 0.05% of the Western population, predominantly women 1, 2, 3, 4. A number of …
Recent findings on genetics of systemic autoimmune diseases
A Delgado-Vega, E Sánchez, S Löfgren… - Current opinion in …, 2010 - Elsevier
Association studies of over 1 million SNPs capturing most of the human genome common
variation became possible thanks to the information provided by the HapMap International …
variation became possible thanks to the information provided by the HapMap International …
[HTML][HTML] FKBP5 expression in human adipose tissue: potential role in glucose and lipid metabolism, adipogenesis and type 2 diabetes
Purpose Here, we explore the involvement of FKBP51 in glucocorticoid-induced insulin
resistance (IR) in human subcutaneous adipose tissue (SAT), including its potential role in …
resistance (IR) in human subcutaneous adipose tissue (SAT), including its potential role in …
Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK
C Castillejo-López, AM Delgado-Vega… - Annals of the …, 2012 - ard.bmj.com
Objectives Altered signalling in B cells is a predominant feature of systemic lupus
erythematosus (SLE). The genes BANK1 and BLK were recently described as associated …
erythematosus (SLE). The genes BANK1 and BLK were recently described as associated …
[HTML][HTML] Proof-of-concept for CRISPR/Cas9 gene editing in human preadipocytes: Deletion of FKBP5 and PPARG and effects on adipocyte differentiation and …
PG Kamble, S Hetty, M Vranic, K Almby… - Scientific reports, 2020 - nature.com
CRISPR/Cas9 has revolutionized the genome-editing field. So far, successful application in
human adipose tissue has not been convincingly shown. We present a method for gene …
human adipose tissue has not been convincingly shown. We present a method for gene …
[HTML][HTML] BANK1 and BLK act through phospholipase C gamma 2 in B-cell signaling
M Bernal-Quirós, YY Wu, ME Alarcón-Riquelme… - PloS one, 2013 - journals.plos.org
The B cell adaptor protein with ankyrin repeats (BANK1) and the B lymphoid tyrosine kinase
(BLK) have been genetically associated with autoimmunity. The proteins of these genes …
(BLK) have been genetically associated with autoimmunity. The proteins of these genes …
The serine protease Sp7 is expressed in blood cells and regulates the melanization reaction in Drosophila
C Castillejo-López, U Häcker - Biochemical and biophysical research …, 2005 - Elsevier
Serine proteases play a central role in defense against pathogens by regulating processes
such as blood clotting, melanization of injured surfaces, and proteolytic activation of …
such as blood clotting, melanization of injured surfaces, and proteolytic activation of …
[PDF][PDF] Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
Neurochondrin (NCDN) is a cytoplasmatic neural protein of importance for neural growth,
glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss of Ncdn in …
glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss of Ncdn in …
Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein
AM Delgado-Vega, MG Dozmorov, MB Quirós… - Annals of the …, 2012 - ard.bmj.com
Objectives To perform fine mapping of the autoimmunity susceptibility gene BLK and identify
functional variants involved in systemic lupus erythematosus (SLE). Methods Genotyping of …
functional variants involved in systemic lupus erythematosus (SLE). Methods Genotyping of …
[HTML][HTML] The fat-like gene of Drosophila is the true orthologue of vertebrate fat cadherins and is involved in the formation of tubular organs
C Castillejo-López, WM Arias, S Baumgartner - Journal of Biological …, 2004 - ASBMB
Fat cadherins constitute a subclass of the large cadherin family characterized by the
presence of 34 cadherin motifs. To date, three mammalian Fat cadherins have been …
presence of 34 cadherin motifs. To date, three mammalian Fat cadherins have been …