Dataset Information

Characterization of a novel Lbr Mutation

ABSTRACT: We have characterised the product of a novel N terminal deletion of Lbr gene.

INSTRUMENT(S): LTQ, Q Exactive

ORGANISM(S): Homo Sapiens (human) Mus Musculus (mouse)

TISSUE(S): Spleen, B Cell, Monocyte, T Cell, Dendritic Cell, Granulocyte, Enterocyte, Macrophage, Small Intestine

DISEASE(S): Pelger-huet Anomaly

SUBMITTER: Frank Stein

LAB HEAD: Andrea Cerase

PROVIDER: PXD024111 | Pride | 2021-09-10

REPOSITORIES: Pride

ACCESS DATA

Dataset's files

Source:

			Action	DRS
	170804_P0417_MR_AY_1A_R1.raw	Raw
	170804_P0417_MR_AY_1B_R1.raw	Raw
	170804_P0417_MR_AY_2A_R1.raw	Raw
	170804_P0417_MR_AY_2B_R1.raw	Raw
	170804_P0417_MR_AY_3A_R1.raw	Raw

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Publications

Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation.

Young Alexander Neil AN Perlas Emerald E Ruiz-Blanes Nerea N Hierholzer Andreas A Pomella Nicola N Martin-Martin Belen B Liverziani Alessandra A Jachowicz Joanna W JW Giannakouros Thomas T Cerase Andrea A

Communications biology 20210412 1

Mutations in the gene encoding Lamin B receptor (LBR), a nuclear-membrane protein with sterol reductase activity, have been linked to rare human disorders. Phenotypes range from a benign blood disorder, such as Pelger-Huet anomaly (PHA), affecting the morphology and chromatin organization of white blood cells, to embryonic lethality as for Greenberg dysplasia (GRBGD). Existing PHA mouse models do not fully recapitulate the human phenotypes, hindering efforts to understand the molecular etiology ...[more]

PMID: 33846535

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