about
Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.Type 1 Diabetes Prevention in NOD Mice by Targeting DPPIV/CD26 Is Associated with Changes in CD8⁺T Effector Memory Subset.The chemokine network. I. How the genomic organization of chemokines contains clues for deciphering their functional complexity.Copy number variation in chemokine superfamily: the complex scene of CCL3L-CCL4L genes in health and disease.Analysis of the cumulative changes in Graves' disease thyroid glands points to IFN signature, plasmacytoid DCs and alternatively activated macrophages as chronicity determining factors.Genetics of Graves' Disease: Special Focus on the Role of TSHR Gene.AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease.Population structure in copy number variation and SNPs in the CCL4L chemokine gene.Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation.Novel Mutations Causing C5 Deficiency in Three North-African Families.Graves' disease TSHR-stimulating antibodies (TSAbs) induce the activation of immature thymocytes: a clue to the riddle of TSAbs generation?Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.Central T cell tolerance: Identification of tissue-restricted autoantigens in the thymus HLA-DR peptidome.Development of a new HLA-DRB real-time PCR typing method.CD26/DPPIV inhibition alters the expression of immune response-related genes in the thymi of NOD mice.TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.Association of an SNP with intrathymic transcription of TSHR and Graves' disease: a role for defective thymic tolerance.Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency DiseasesCopy number variation in the CCL4L gene is associated with susceptibility to acute rejection in lung transplantationLRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental IsodisomyExtended immunophenotyping reference values in a healthy pediatric populationCentral Tolerance Mechanisms to TSHR in Graves' Disease: Contributions to Understand the Genetic AssociationLethal Influenza in Two Related Adults with Inherited GATA2 DeficiencyAutoimmune Predisposition in Down Syndrome May Result from a Partial Central Tolerance Failure due to Insufficient Intrathymic Expression ofAIREand Peripheral AntigensA Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary AngioedemaCCL4L Polymorphisms and CCL4/CCL4L Serum Levels Are Associated with Psoriasis SeverityeDiVA-Classification and prioritization of pathogenic variants for clinical diagnosticsMultiple products derived from two CCL4 loci: high incidence of a new polymorphism in HIV+ patientsTh1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestationsIdentification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain)Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected FindingsFirst Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)Serum protein electrophoresis and complement deficiencies: a veteran but very versatile test in clinical laboratoriesThe IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotypeMolecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activityRegulation of TSHR Expression in the Thyroid and Thymus May Contribute to TSHR Tolerance Failure in Graves' Disease Patients via Two Distinct Mechanisms
P50
Q33429042-136A45C0-0EE1-4037-9E9C-654944D6ADB0Q35837580-B3B2DA49-37C8-4015-9D44-27963B6DBF68Q36793120-BE9F790D-7652-4FB5-A881-33BE849BB8C4Q37775691-06E8BDE0-2A16-47D3-8162-964101878510Q38503228-FABDC695-9C1B-46E0-8C7E-8EAA7D564002Q38585015-0063C503-ADA8-4725-AD22-D5F8556AC416Q38856320-0A7E0A23-9ACF-418C-8339-A0E9C9CE7132Q38859825-71366620-B58E-4A51-8044-DCA89B4D8BD3Q38951086-341E1CE0-4734-4D1E-8BBB-B092949D3535Q40709051-86153C8D-EB3C-4CA3-AFF0-6EDEDF058B91Q40736568-4EE3335A-8800-4CB9-A3BA-C2CB2B0B2807Q41377760-C38C1022-4FE6-454F-9590-71C0DF6CF157Q41994752-211B44B6-7786-4BD4-82C4-112561A902F0Q42215384-D74C0B13-BD79-403E-AC53-29CE74191F05Q44219315-22DC680B-21F4-417D-AD65-C3BAE08BA49AQ45012767-4D11A03B-6DEE-4D9E-AB35-1D415F6556BCQ45202634-87153D2D-5916-4B15-8822-A734BC38E108Q52883322-36F14696-5179-407D-995C-D38D5448D30FQ53825186-6E532994-8320-430E-8CDE-9C4034BEC62EQ54367442-67B10F11-DA1C-4FE9-A619-5CCC52F88C57Q55032333-016A3290-CC7F-448E-941D-9BBFD36B1262Q57066671-11288492-9A9C-4691-A9B1-619BA02C0A8FQ57215497-ACF02A1F-B04B-482D-A4F6-8E0CBACB3329Q58553732-39677927-5C1D-446E-96A2-BB22C8315038Q58605902-697B9044-D40C-4DB4-85D3-B43C27667849Q58610335-BE0E1355-147D-47AF-8E17-69EA95BC6436Q59359537-25869ABC-5D1C-4B09-BCD4-FB24C0F42829Q61738107-738EFACC-4CC3-4E57-980C-A10831700284Q61847314-3F37C278-8B17-4E6D-A464-C1F41293B42AQ61905788-CB5134AF-361D-494D-8037-2521C3DD7DD1Q64039433-F8969811-D98B-4309-8CFA-06CB0D5ABB63Q81672197-8CBA1365-5484-4487-A813-266385794B5AQ90665079-60B82E9B-EA90-4761-A83A-3F4F29123288Q90997263-4179E856-6AAE-484E-80DE-44642BB0A99AQ91082712-6E40748E-4D4B-4903-87A9-FEB5E219E89DQ91154309-535906F8-C7EB-40AC-9F93-2A44CDD9C607Q91351226-4D9F1F0A-5816-4DBE-8646-93A21BFAFE20Q91679138-25107070-4726-433B-918A-92680F9D2F3DQ92179579-70F772E5-07A0-4C8C-B358-5A82FE47AC38Q92405227-3E6C22DA-BE25-4230-AB25-E660D3559AD5
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Roger Colobran
@ast
Roger Colobran
@en
Roger Colobran
@es
Roger Colobran
@nl
Roger Colobran
@sl
type
label
Roger Colobran
@ast
Roger Colobran
@en
Roger Colobran
@es
Roger Colobran
@nl
Roger Colobran
@sl
prefLabel
Roger Colobran
@ast
Roger Colobran
@en
Roger Colobran
@es
Roger Colobran
@nl
Roger Colobran
@sl
P108
P214
P106
P108
P1153
16551994400
P214
P31
P496
0000-0002-5964-536X
P735
P7859
viaf-316755237