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lipodystrophy
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Pyrimidine metabolism
Homo sapiens (human)
one gene
Purine metabolism
Homo sapiens (human)
one gene
Clinical Trials
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External
Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases)
Cancer Gene Census
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PPARG
Somatic tumors
follicular thyroid
Tumor types germline
Cancer Syndrom
Translocation partner
PAX8
Name
peroxisome proliferative activated receptor, gamma
Chromosome banding
3p25
Cancer molecular gen.
Dom
Mutation type
T
Other syndrome disease
Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension
PubMed Links
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PSMB8
How to diagnose a lipodystrophy syndrome
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders
Structure and functions of the 20S and 26S proteasomes
Death by deamination: a novel host restriction system for HIV-1
Alternative exon usage and processing of the major histocompatibility complex-encoded proteasome subunits
DNA sequence analysis of 66 kb of the human MHC class II region encoding a cluster of genes for antigen processing
A proteasome-related gene between the two ABC transporter loci in the class II region of the human MHC
AGPAT2
Characterization of a human lysophosphatidic acid acyltransferase that is encoded by a gene located in the class III region of the human major histocompatibility complex
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34
BSCL2
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
CAV1
Human caveolin-1 and caveolin-2 are closely linked genes colocalized with WI-5336 in a region of 7q31 frequently deleted in tumors
PTRF
Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules
LMNA
Reversal of the cellular phenotype in the premature aging disease Hutchinson������Gilford progeria syndrome
Charcot������Marie������Tooth Neuropathy Type 2
Congenital Muscular Dystrophy Overview
''LMNA''-Related Dilated Cardiomyopathy
Limb-Girdle Muscular Dystrophy Overview
Emery������Dreifuss Muscular Dystrophy
PPARG
Honokiol: a non-adipogenic PPAR�� agonist from nature
Multiprotein bridging factor-1 (MBF-1) is a cofactor for nuclear receptors that regulate lipid metabolism
A PPARgamma mutant serves as a dominant negative inhibitor of PPAR signaling and is localized in the nucleus
PLIN1
Gender-specific association of a perilipin gene haplotype with obesity risk in a white population
POLD1
Primary structure of the catalytic subunit of human DNA polymerase delta and chromosomal location of the gene
Definition
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