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Novel gene mutation associated with central precocious puberty in a Chinese child: a case report.
Front Endocrinol (Lausanne)
January 2025
Baoding Hospital, Beijing Children's Hospital Affiliated with Capital Medical University, Baoding, China.
Objective: The objective of this study is to investigate the clinical presentation and underlying genetic etiology of a Chinese child diagnosed with idiopathic central precocious puberty (ICPP).
Methods: Clinical data from a pediatric patient with ICPP, including medical history, physical examination findings, laboratory results, and imaging studies, were collected and analyzed. Whole exome sequencing (WES) was performed to identify potential pathogenic genetic variants underlying the patient's ICPP.
Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism.
J Neuroendocrinol
October 2024
Center for Reproductive Medicine, Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Article Synopsis
- * Two of these genes, TACR3 and MKRN3, are linked to severe disorders related to puberty, suggesting a connection might exist between normal and extreme cases of pubertal timing disorders.
- * However, research on individuals with idiopathic hypogonadotropic hypogonadism (IHH) showed that while TACR3 had significant genetic links, the other five genes did not, challenging the idea of a continuous genetic risk for pubertal issues
Comprehensive analysis of the functions, prognostic and diagnostic values of RNA binding proteins in head and neck squamous cell carcinoma.
J Stomatol Oral Maxillofac Surg
September 2024
School of Stomatology, Wannan Medical College, Wuhu, China; Anhui Provincial Engineering Research Center for Dental Materials and Application, Wannan Medical College, Wuhu, China. Electronic address:
Article Synopsis
- Accumulating evidence suggests that dysregulation of RNA binding proteins (RBPs) is linked to tumor development, particularly in head and neck squamous cell carcinoma (HNSCC).
- Researchers identified 84 RBPs that were differently expressed in HNSCC compared to normal tissue and developed diagnostic and prognostic models using specific RBP genes.
- The study highlighted seven RBPs as diagnostic-related hub genes, achieving high accuracy for diagnosis, and another set of seven RBPs for prognosis, which also showed promising predictive ability for patient outcomes.
Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Orphanet J Rare Dis
April 2024
Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Article Synopsis
- The report highlights the activities of the Molecular Genetics-Function and Therapy (MGFT) department at the Cyprus Institute of Neurology and Genetics, emphasizing its role as a Reference Center for the European Network on Rare Endocrine Conditions (Endo-ERN).
- Over 15 years of collaboration has resulted in more than 2000 genetic tests performed for diagnosing rare inherited endocrine disorders, with significant findings related to various genetic variants associated with conditions like Congenital Adrenal Hyperplasia (CAH) and Multiple Endocrine Neoplasia (MEN).
- The MGFT has also developed a diagnostic and research program focusing on premature puberty, particularly the role of the MKRN3 gene, aiming to enhance healthcare for patients with rare endocrine
Novel variants ensued genomic imprinting in familial central precocious puberty.
J Endocrinol Invest
August 2024
Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Millet Cad. Çapa/Fatih, 34096, Istanbul, Turkey.
Introduction: Central precocious puberty (CPP) is characterized by the early onset of puberty and is associated with the critical processes involved in the pubertal switch. The puberty-related gene pool in the human genome is considerably large though few have been described in CPP. Within those genes, the genomic imprinting features of the MKRN3 and DLK1 genes add additional complexity to the understanding of the pathologic pathways.
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