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• W2793131647 abstract "Human genetics have contributed enormously to our quest to understand the developmental pattern of GnRH neuron function throughout life. The most outstanding example relates to the KNDy hypothesis of the GnRH pulse generator that has emerged as a result of the identification of kisspeptin and neurokinin B ligand-receptor gene pair mutations in consanguineous human families with absent pubertal development. More recent findings on loss of function mutations of MKRN3 in early puberty may point to a putative pubertal brake. It is noteworthy that three genes (TACR3, MKRN3, and LEPR) associated with Mendelian forms of pubertal disorders have been found to have influences on pubertal timing in the general population. This reverse translational pathway of discovery may promise even more with the modern molecular genetics techniques such as whole exome/genome sequencing. The challenges in finding new puberty genes despite advanced genotyping techniques particularly in studies on delayed puberty should be recognized. It appears that the complexity of genotype-phenotype relationships in delayed puberty stems from the interplay of two phenomena: oligogenic inheritance and spontaneous or induced clinical reversibility. These challenges may reflect the complexity of GnRH neuronal function and require more comprehensive studies in both Clinical Neuroendocrinology and Molecular Genetics. Even after successfully pinpointing the responsible “puberty genes”, often several in each pedigree, researchers need to find a way of studying them together, as opposed to one by one traditionally, to find out the interplay among them and contribution to the phenotype by each gene." @default.
• W2793131647 created "2018-03-29" @default.
• W2793131647 creator A5017750258 @default.
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• W2793131647 date "2018-03-02" @default.
• W2793131647 modified "2023-09-26" @default.
• W2793131647 title "Human Genetics of GnRH Neuron Function" @default.
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• W2793131647 doi "https://doi.org/10.1002/9781119233275.ch17" @default.
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