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NÚÑEZ-TORRES , Rocío

Last name: NÚÑEZ-TORRES

First name: Rocío

June 22, 2021 (v1)

Publication

Metadata-only

Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR

Ruiz Ferrer, Macarena Torroglosa, Ana Núñez-Torres, Rocío

Background: The enteric nervous system (ENS) is entirely derived from neural crest and its normal development is regulated by specific molecular pathways. Failure in complete ENS formation results in aganglionic gut conditions such as Hirschsprung's disease (HSCR). Recently, PROKR1 expression has been demonstrated in mouse enteric neural crest...

Uploaded on: March 27, 2023
April 26, 2021 (v1)

Publication

Metadata-only

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease

Fernández, Raquel María Bleda, Marta Núñez-Torres, Rocío

Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional gene-based association tests rely on the availability of large cohorts, which constitutes a serious limitation for its application in this scenario. To overcome this problem we have used here a combined strategy in which...

Uploaded on: March 25, 2023