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Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.
Clin Genet
November 2024
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Article Synopsis
- - Mulibrey nanism (MUL) is a genetic growth disorder linked to mutations in the TRIM37 gene, leading to growth failure, distinct facial features, heart issues, infertility, and higher cancer risk.
- - A study of 33 MUL patients, aged 4.5-48 years, assessed their long bones and spine through radiographs, revealing significant skeletal abnormalities such as slender and bowed long bones, thick cortices, and tall vertebral bodies.
- - The study confirmed that all patients had skeletal changes, with 58% showing fibrous dysplasia and 52% having a history of fractures, highlighting TRIM37's critical role in skeletal development and maintenance.
Subtle echocardiogram findings requiring further investigation: restrictive cardiomyopathy in a rare genetic condition.
BMJ Case Rep
October 2024
School of Medicine, Duke University School of Medicine, Durham, North Carolina, USA.
Article Synopsis
- Mulibrey nanism (MN) is a rare genetic disorder affecting growth and causing serious health issues, with about 150 cases identified globally since 1973.
- A case study of a male toddler with MN showed symptoms like hypoxia and swelling, leading to a complex diagnostic process that confirmed restrictive cardiomyopathy through invasive testing.
- The case emphasizes the challenges of diagnosing restrictive cardiomyopathy using echocardiography and underscores the importance of a multidisciplinary, family-centered treatment approach for this condition.
Mesoscale regulation of MTOCs by the E3 ligase TRIM37.
bioRxiv
October 2024
Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Centrosomes ensure accurate chromosome segregation during cell division. Although the regulation of centrosome number is well-established, less is known about the suppression of non-centrosomal MTOCs (ncMTOCs). The E3 ligase TRIM37, implicated in Mulibrey nanism and 17q23-amplified cancers, has emerged as a key regulator of both centrosomes and ncMTOCs.
View Article and Find Full Text PDFTRIM37 employs peptide motif recognition and substrate-dependent oligomerization to prevent ectopic spindle pole assembly.
bioRxiv
October 2024
Department of Cell & Developmental Biology, School of Biological Sciences, University of California San Diego, La Jolla, California 92093, USA.
Tightly controlled duplication of centrosomes, the major microtubule-organizing centers of animal cells, ensures bipolarity of the mitotic spindle and accurate chromosome segregation. The RBCC (RING-B-box-coiled coil) ubiquitin ligase TRIM37, whose loss is associated with elevated chromosome missegregation and the tumor-prone developmental human disorder Mulibrey nanism, prevents the formation of ectopic spindle poles that assemble around structured condensates containing the centrosomal protein centrobin. Here, we show that TRIM37's TRAF domain, unique in the extended TRIM family, engages peptide motifs in centrobin to suppress condensate formation.
View Article and Find Full Text PDFMulibrey Nanism: A Case with Heart Failure.
Turk Kardiyol Dern Ars
September 2024
Department of Cardiology, Ankara Bilkent City Hospital, Ankara, Türkiye.
Mulibrey Nanism is a rare genetic disorder characterized by a variety of systemic manifestations, including cardiac involvement. We report the case of a 26-year-old male who underwent partial pericardiectomy for constrictive pericarditis at age 4 and presented to our cardiology clinic with heart failure symptoms. Examination revealed dysmorphic features characteristic of Mulibrey Nanism such as short stature, macrocephaly, and hypertelorism.
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