Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway-Reference-Cited by-同舟云学术

Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway

Published:2017-01-22 Issue:3 Volume:173 Page:758-761
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Marble Michael¹²,Guillen Sacoto Maria J.³,Chikarmane Rashmi³,Gargiulo Dominic²⁴,Juusola Jane³

Affiliation:

1. Division of Clinical Genetics and Metabolism; Department of Pediatrics; Louisiana State University Health Sciences Center; New Orleans Louisiana

2. Children's Hospital of New Orleans; New Orleans Louisiana

3. GeneDx; Gaithersburg Maryland

4. Division of Pediatric Orthopedics; Department of Orthopedics; Louisiana State University Health Sciences Center; New Orleans Louisiana

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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5. NOTCH1 activation in breast cancer confers sensitivity to inhibition of SUMOylation;Licciardello;Oncogene,2015

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3. A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins;Blood Advances;2022-04-04

4. WTIP upregulates FOXO3a and induces apoptosis through PUMA in acute myeloid leukemia;Cell Death & Disease;2021-12-20

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