ArticleArquivos brasileiros de endocrinologia e metabologia2012
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.
Article in Arquivos brasileiros de endocrinologia e metabologia, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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Who cites it
25 citing papers in PubMed, 64 citations in OpenAlex.
- Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.Frontiers in endocrinology · 2024Article
- Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.The Journal of clinical endocrinology and metabolism · 2023Article
- Integrative proteomic and phosphoproteomic analysis in the female goat hypothalamus to study the onset of puberty.BMC genomics · 2023Article
- The Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls.Children (Basel, Switzerland) · 2023Review
- Co-Expression Network and Integrative Analysis of Metabolome and Transcriptome Uncovers Biological Pathways for Fertility in Beef Heifers.Metabolites · 2022Article
- Functional Rescue of Inactivating Mutations of the Human Neurokinin 3 Receptor Using Pharmacological Chaperones.International journal of molecular sciences · 2022Article
- Genetics of pubertal timing.Best practice & research. Clinical endocrinology & metabolism · 2022Review
- Transcriptome Sequencing-Based Mining of Genes Associated With Pubertal Initiation in Dolang Sheep.Frontiers in genetics · 2022Article
- Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty.NPJ genomic medicine · 2021Article
- Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.Human genetics · 2021Review
- Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay.The Journal of clinical endocrinology and metabolism · 2020Article
- Kisspeptin and neurokinin B analogs use in gynecological endocrinology: where do we stand?Journal of endocrinological investigation · 2020Review
- EAP1 regulation of GnRH promoter activity is important for human pubertal timing.Human molecular genetics · 2019Article
- Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study.Frontiers in pediatrics · 2019Article
- Genes underlying delayed puberty.Molecular and cellular endocrinology · 2018Review
- Genetics of pubertal timing.Current opinion in pediatrics · 2018Review
- Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.European journal of endocrinology · 2018Article
- Identification of differential genomic DNA Methylation in the hypothalamus of pubertal rat using reduced representation Bisulfite sequencing.Reproductive biology and endocrinology : RB&E · 2017Article
- The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP).Journal of endocrinological investigation · 2017Review
- An update on the genetic causes of central precocious puberty.Annals of pediatric endocrinology & metabolism · 2016Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
objectiveTo investigate the presence of variants in the TAC3 and TACR3 genes, which encode NKB and its receptor (NK3R), respectively, in a large cohort of patients with idiopathic central pubertal disorders. SUBJECTS AND
methodsTwo hundred and thirty seven patients were studied: 114 with central precocious puberty (CPP), 73 with normosmic isolated hypogonadotropic hypogonadism (IHH), and 50 with constitutional delay of growth and puberty (CDGP). The control group consisted of 150 Brazilian individuals with normal pubertal development. Genomic DNA was extracted from peripheral blood and the entire coding region of both TAC3 and TACR3 genes were amplified and automatically sequenced.
resultsWe identified one variant (p.A63P) in NKB and four variants, p.G18D, p.L58L (c.172C>T), p.W275* and p.A449S in NK3R, which were absent in the control group. The p.A63P variant was identified in a girl with CPP, and p.A449S in a girl with CDGP. The known p.G18D, p.L58L, and p.W275* variants were identified in three unrelated males with normosmic IHH.
conclusionRare variants in the TAC3 and TACR3 genes were identified in patients with central pubertal disorders. Loss-of-function variants of TACR3 were associated with the normosmic IHH phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.