Bardet-biedl syndrome.

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Organisms

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Disease

Bardet-Biedl syndrome 1 (2)
Ciliopathy (2)
Bardet-Biedl syndrome (1)

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Mass Spectrometry (8)
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CHEBI ID

CHEBI:156118 (1)
CHEBI:183804 (1)
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CHEBI:134242 (1)
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CHEBI:64517 (1)
CHEBI:86472 (1)
CHEBI:66849 (1)
CHEBI:66850 (1)
CHEBI:64568 (1)
CHEBI:64561 (1)
CHEBI:183798 (1)

Metabolite Name

PI (40:6) (1)
PI (38:6).(16:0/22:6) (1)
PI (38:5)c (1)
PG (36:1)b.(18:0/18:1) (1)
PG (36:1)a.(18:0/18:1) (1)
PC (40:8)a.(18:2/22:6) (1)
PC (40:7)b.(18:1/22:6) (1)
PC (40:7)a.(18:1/22:6) (1)
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PC (38:6)c.(18:2/20:4) (1)
PC (38:6)a.(16:0/22:6) (1)
PC (38:4).(18:0/20:4) (1)
PC (38:3).(18:0/20:3) (1)
PC (38:2)a.(18:0/20:2) (1)
PC (38:1).(18:0/20:1) (1)
PC (37:1).(18:0/19:1) (1)
PC (36:6).(14:0/22:6) (1)
PC (36:5)a.(16:0/20:5) (1)
PC (36:3)b.(18:1/18:2) (1)
PC (36:2)c.(18:1/18:1) (1)
PC (36:2)b.(18:0/18:2) (1)
PC (36:2)a.(16:0/20:2) (1)
PC (36:1).(18:0/18:1) (1)
PC (36:1).(16:0/20:1) (1)
PC (36:0).(18:0/18:0) (1)
PC (35:2)a.(17:0/18:2) (1)
PC (35:1).(18:0/17:1) (1)
PC (35:1).(16:0/19:1) (1)
PC (34:2).(16:0/18:2) (1)

First Public Date

2025 (4)
2021 (4)
2022 (3)
2017 (2)
2014 (2)
2026 (1)
2023 (1)
2018 (1)

Study type

Transcription profiling by array (12)

Release Date

2022 (42)
2021 (42)
2023 (33)
2014 (25)
2020 (24)
2025 (23)
2011 (22)
2019 (19)
2017 (18)
2015 (17)
2024 (17)
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2013 (14)
2010 (12)
2012 (11)
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2008 (8)
2006 (7)
2007 (5)
2003 (3)
2005 (2)
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2001 (2)
1999 (2)
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2002 (1)

Lab affiliation

Baxter Laboratory for Stem Cell Biology Department of Microbiology & Immunology Stanford University School of Medicine 269 Campus Drive CCSR 3205b Stanford, CA 94305-5175 (1)
Centre for Gene Regulation & Expression, School of Life Sciences, University of Dundee (1)
Department of Ophthalmology, University of California, Irvine, CA 92697 (1)
Institute for ophthalmic research, Eberhard Karls Universität Tübingen (1)
Institute of Medical Genetics, Bachmann-Lab, University of Zurich (1)
Institute of Medical Genetics, Bachmann-Lab, University of Zurich, Switzerland (1)
Medical Bioanalytics Institute for Ophthalmic Research Eberhard-Karls-University Tuebingen (1)
University of Vigo (1)

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The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition

Summary

Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Retinal degeneration is common in ciliopathies, since the outer segments (OSs) of photoreceptors are highly specialized primary cilia. BBS...

2022-02-18 | MTBLS4013 | MetaboLights

BBSome Core Complex

Chemical crosslinking coupled with mass spectrometry data for the BBSome Core Complex

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

2017-08-22 | MSV000081472 | MassIVE

HipSci Whole Exome sequencing Bardet Biedl Syndrome

The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform whole exome sequencing using Agilent whole exome pulldown meth...

EGAS00001000969 | EGA

Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome.

Not available

S-EPMC8201861 | biostudies-literature

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

Not available

S-EPMC5328148 | biostudies-literature

Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort.

Not available

S-EPMC12933228 | biostudies-literature

Single cell RNA-sequencing of Bardet Biedl Syndrome iPSC-derived hypothalamic neurons

PRJNA692372 | ENA