Project description:Gene expression was studied from the blood derived RNAs of the Finnish family members as well as from 10 controls using GeneChip Human Genome U133 Plus2 (Affymetrix). Eight out of 10 family members in the expression analysis are heterozygous for the NPAT c.2437-2438delAG, three of which are NLPHL cases. NPAT expression was studied in the NLPHL patients and the carriers of the deletion c.2437-2438delAG (8) compared to the controls and the non-mutation carriers (12). Note: Case 2 not submitted. Publication pending.

2011-04-14 | E-GEOD-28536 | biostudies-arrayexpress

EGAS00001000071-sc-20130205 - samples

Project description:Exome sequencing of 30 parent-offspring trios to >50X mean depth, where the offspring has sporadic TOF, to identify potential causal de novo mutations. We will use the exome plus design for pulldown that incorporates ~6.8Mb of additional regulatory sequences in addition to the ~50Mb GENCODE exome.

| EGAD00001000344 | EGA

Homo sapiens

Project description:Whole exome sequencing of 5 members of IPEX family

| PRJNA194428 | ENA

Cooperative target mRNA destabilization and translation inhibition by miR-58 microRNA family in C. elegans [RNA-Seq]

Project description:In animals, microRNAs frequently form families with related sequences. The functional relevance of miRNA families and the relative contribution of family members to target repression have remained, however, largely unexplored. Here, we used the C. elegans miR-58 miRNA family, comprised primarily of four highly abundant members: miR-58.1, miR-80, miR-81 and miR-82, as a model to investigate the redundancy of miRNA family members and their impact on target expression in an in vivo setting.

2015-06-05 | GSE60420 | GEO

Cooperative target mRNA destabilization and translation inhibition by miR-58 microRNA family in C. elegans [miRNA-Seq]

2015-06-05 | GSE60419 | GEO

8b6c8fbd-8ba8-45db-99e2-b061781e7e90 - samples

Project description:The dataset contains whole exome sequencing of a family revealing a homozygous splice variant LGR4 gene rresponsible of salt wasting and adrenal zonation alteration. The members sequences were the proband with hypoaldosteronism , her parents and her two healthy brother in a consanguineous family.

| EGAD00001009761 | EGA

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