Sunil Epuri, Dudi Nikitha, Kalyan Ram Uppaluri, Hima Jyothi Challa, Kalyani Palasamudram, Vrushabh Anil Nikhade, K. Sri Manjari
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引用次数: 0
Abstract
A woman with a prior diagnosis of thyroid dysfunction was found to have hyperprolactinemia and incidental hypercalcemia. Further investigation led to the diagnosis of a parathyroid adenoma. The unique constellation of hormonal abnormalities and multifocal thyroid nodules defied explanation by known MEN syndromes (no family history). We report the identification of a heterozygous p.Val109Gly mutation in CDKN1B, a gene associated with MEN4 syndrome, through targeted genetic testing. The presented case expands the phenotypic spectrum of MEN4 and highlights the utility of genetic testing in diagnosing syndromic forms of endocrine hyperplasias.
Gene ReportsBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
3.30
自引率
7.70%
发文量
246
审稿时长
49 days
期刊介绍：
Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.
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