Wu D J DJ - OmicsDI

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Unknown (878)
Transcriptomics (27)
Genomics (21)
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Metabolomics (8)

Organisms

Homo sapiens (39)
Methanobrevibacter cuticularis (8)
Brevibacillus sp. (8)
Bigelowiella natans (8)
Albugo laibachii Nc14 (8)
Methermicoccus shengliensis DSM 18856 (8)
Thalassiosira pseudonana (8)
Pongo abelii (8)
Acinetobacter baylyi ADP1 (8)
Leishmania tropica (8)
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biostudies-arrayexpress (28)
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pride (8)
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Disease

Gray platelet syndrome (2)
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Disease free (1)
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Technology Type

Mass Spectrometry (8)
Mass spectrometry (6)
Shotgun proteomics (4)
SWATH MS (2)
AB SOLiD 4 System, Illumina HiSeq 2500, Illumina HiSeq 2000, AB SOLiD System 3.0 (1)
NMR spectroscopy (1)
All-ion fragmentation (1)
Data-independent acquisition (1)
Top-down proteomics (1)
Bottom-up proteomics (1)
Affinity purification coupled with mass spectrometry proteomics (1)

Instrument Platform

Liquid Chromatography MS - positive - reverse phase (3)
Q Exactive Plus (1)
TripleTOF 6600 (1)
Orbitrap Fusion Lumos (1)
Liquid Chromatography MS – NEG (1)
Liquid Chromatography MS – POS (1)
Liquid Chromatography MS - - hilic (1)
Nuclear Magnetic Resonance (NMR) - (1)
Liquid Chromatography MS - (1)
Liquid Chromatography MS - negative - reverse phase (1)
Liquid Chromatography MS - negative - hilic (1)
Liquid Chromatography MS - positive - hilic (1)

Publication Date

2013 (7)
2012 (7)
2022 (5)
2014 (4)
2011 (4)
2023 (4)
2024 (3)
2006 (2)
2020 (2)
2009 (1)
2008 (1)
2007 (1)
2002 (1)
2021 (1)
2025 (1)
2019 (1)
2018 (1)

CHEBI ID

CHEBI:30911 (3)
CHEBI:17497 (3)
CHEBI:6650 (3)
CHEBI:16530 (3)
CHEBI:16449 (3)
CHEBI:18186 (3)
CHEBI:32816 (3)
CHEBI:18012 (3)
CHEBI:28044 (3)
CHEBI:17750 (3)
CHEBI:16359 (3)
CHEBI:15940 (3)
CHEBI:17568 (3)
CHEBI:16704 (3)
CHEBI:17533 (3)
CHEBI:44897 (3)
CHEBI:17821 (3)
CHEBI:15428 (3)
CHEBI:16737 (3)
CHEBI:27897 (3)
CHEBI:15354 (3)
CHEBI:17596 (3)
CHEBI:17368 (3)
CHEBI:133145 (2)
CHEBI:16891 (2)
CHEBI:28013 (2)
CHEBI:86038 (2)
CHEBI:29042 (2)
CHEBI:17027 (2)
CHEBI:30860 (2)

Metabolite Name

Hydroxyisocaproic acid (2)
ATP (2)
AMP (2)
Fumarate (2)
Uracil (2)
L-Arginine (2)
UMP (2)
Choline (2)
Cholic acid (2)
Creatinine (2)
1-Methyladenosine (2)
Hypoxanthine (2)
Histamine (2)
Succinate (2)
Phosphorylcholine (2)
Uric acid (2)
KDPG (1)
FBP (1)
6PG (1)
F1P (1)
S7P (1)
F6P (1)
(?¡À)-Sulfobutanedioic acid (1)
7-Ethyl-10-Hydroxycamptothecin (1)
4-[(E)-2-(3,5-dihydroxyphenyl)ethenyl]benzene-1,3-diol (1)
(R)-Roemerine (1)
Germacr-1(10)-ene-5,8-dione (1)
L-Pyroglutamic?acid (1)
D(+)-Pipecolinic acid (1)
Harderoporphyrinogen (1)

Study type

Transcription profiling by array (22)
Other (3)
Genotyping by array (1)
RNA-seq of coding RNA (1)

Release Date

2018 (91)
2024 (88)
2021 (81)
2022 (77)
2023 (76)
2025 (74)
2020 (73)
2015 (48)
2014 (42)
2016 (38)
2012 (37)
2019 (37)
2017 (37)
2013 (33)
2011 (25)
2010 (12)
2009 (9)
2026 (9)
2006 (7)
2008 (5)
2007 (5)
2002 (1)
2001 (1)

Lab affiliation

Stoller Biomarker Discovery Centre, University of Manchester, United kingdom (1)
Head, Ubiquitin Signalling Division The Walter and Eliza Hall Institute of Medical Research 1G Royal Parade, Parkville 3052, VIC, Australia Professor, Department of Medical Biology University of Melbourne, 3010 Melbourne, VIC, Australia (1)
Drug Delivery, Disposition and Dynamics, Monash Institute of Pharmaceutical Sciences, Monash University, 381 Royal Parade, Parkville, Victoria 3052, Australia (1)
European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI) (1)
Laboratory for Biological Mass Spectrometry, Biosciences Institute, Newcastle University, Newcastle-upon-Tyne, NE2 4HH, UK (1)
Boston Children's Hospital | Harvard Medical School (1)
Department of Surgery, Erasmus MC-University Medical Center, Rotterdam, The Netherlands. (1)
Leibniz-Institut für Analytische Wissenschaften – ISAS – e.V. Otto-Hahn-Straße 6b 44227 Dortmund, Germany P: +49 (0)2 31.13 92-100 F: +49 (0)2 31.13 92-200 www.isas.de (1)

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NUDCD3 deficiency disrupts V(D)J recombination to cause SCID/Omenn syndrome

Inborn errors of T cell development present a pediatric emergency in which timely curative therapy is informed by molecular diagnosis. In 9 affected patients across 3 consanguineous kindreds, we detected homozygosity for a single deleterious missense variant in the gene NudC domain containing 3 (NUD...

ORGANISM(S): Homo sapiens (Human)

2024-09-27 | PXD035840 | Pride