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A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Orphanet J Rare Dis
December 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Meier-Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. Additionally, whether growth hormone (GH) treatment can increase the height of children with MGORS is unclear.
View Article and Find Full Text PDFClinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.
Medicina (Kaunas)
November 2024
Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410081 Oradea, Romania.
is a rare group of genetic conditions where individuals experience severe growth restriction, both in the womb and after birth. From as early as the fetal stage, those affected are significantly smaller than their peers. What makes PD distinct is its slow but steady growth pattern, resulting in proportionate dwarfism, where all parts of the body are equally shortened.
View Article and Find Full Text PDFProteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Mol Syst Biol
September 2024
Department of Chemistry - BMC, Box 576, Husargatan 3, 751 23, Uppsala, Sweden.
Whole genome and exome sequencing are reporting on hundreds of thousands of missense mutations. Taking a pan-disease approach, we explored how mutations in intrinsically disordered regions (IDRs) break or generate protein interactions mediated by short linear motifs. We created a peptide-phage display library tiling ~57,000 peptides from the IDRs of the human proteome overlapping 12,301 single nucleotide variants associated with diverse phenotypes including cancer, metabolic diseases and neurological diseases.
View Article and Find Full Text PDFIntrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management.
Birth Defects Res
July 2024
Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.
Background: Chromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under- and over-, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.
View Article and Find Full Text PDFMeier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review.
Clin Dysmorphol
October 2024
Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children's Hospital, Ankara, Turkey.
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