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LZTR1 encodes a member of the BTB-kelch superfamily. Zusätzlich bieten wir Ihnen LZTR1 Antikörper (37) und LZTR1 Kits (4) und viele weitere Produktgruppen zu diesem Protein an.
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These clinical and genetic data confirm the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1.
RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease.
LZTR1 acts as a conserved regulator of RAS ubiquitination and MAPK pathway activation. Because LZTR1 disease mutations failed to revert loss-of-function phenotypes, these findings provide a molecular rationale for LZTR1 involvement in a variety of inherited and acquired human disorders.
LZTR1 mutation is associated with Noonan syndrome.
the malignancy risk in schwannomatosis is not well defined but may include an increased risk of malignant peripheral nerve sheath tumor in SMARCB1 Imaging protocols are also proposed for SMARCB1 and LZTR1 schwannomatosis and SMARCE1-related meningioma predisposition.
Nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
Data indicate that molecular analysis of leucine-zipper-like transcription regulator 1 (LZTR1) may contribute to the molecular characterization of schwannomatosis patients.
We show for the first time that an inherited mutation in PBRM1 predisposes to RCC.
Data confirm the relationship between mutations in LZTR1 and schwannomatosis. They indicate that germline mutations in LZTR1 confer an increased risk of vestibular schwannoma.
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
LZTR-1 is the first BTB-kelch protein that exclusively localizes to the Golgi network
This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome.
leucine-zipper-like transcription regulator 1
, Leucine-zipper-like transcriptional regulator 1
, leucine-zipper-like transcriptional regulator 1
, leucine-zipper-like regulator-1
, leucine-zipper-like transcriptional regulator, 1