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The cloning of the bovine proopiomelanocortin (POMC) cDNA in 1978 by Nakanishi and colleagues was the result of a remarkable series of exacting and ingenious experiments. With this work, they instantly confirmed the single precursor hypothesis for adrenocorticotrophic hormone-β-lipotropin, as it was then known, and in so doing revealed the existence of additional, largely unpredicted, N-terminal peptides that together formed the POMC precursor peptide. This work paved the way for a host of additional studies into the physiology of these peptides and their regulation. Furthermore, the cloning of the murine Pomc gene was essential for subsequent studies, in which Pomc was intentionally deleted in the mouse illuminating its substantial role in body weight regulation and adrenal function. Contemporaneously with this work, naturally occurring mutations in human POMC came to light underlining the vital role of this gene in appetite regulation. This article reviews each of these aspects of POMC with the benefit of several decades of hindsight and informed by more recent genomic and transcriptomic data.
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modified mouse models and patients with mutations in FGF s and FGFR s, we are still far from fully understanding their underlying mechanisms, which prevents us from finding effective cures for those FGF s/ FGFR s-related genetic diseases and injuries
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NHC Key Laboratory of Hormones and Development, Tianjin Key Laboratory of Metabolic Diseases, Chu Hsien-I Memorial Hospital & Tianjin Institute of Endocrinology, Tianjin Medical University, Tianjin, China
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autosomal recessive genetic disease, which leads to lipid deposition in multiple organs of the body due to β-oxidation defects of medium chain fatty acids in mitochondria ( Dearlove & Perkins 1995 ). Previous study reported that PTEN-induced putative kinase
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Introduction FOXL2 is a putative winged helix/forkhead transcription factor gene involved in ovarian development and function. Its mutation leads to the blepharophimosis ptosis epicanthus inversus syndrome (BPES), a rare genetic
Department of Molecular Medicine, Biomedical Science Park San Raffaele, Department of Health and Human Services, Department of Genetics and Molecular Biology, La Sapienza University, 00161 Rome, Italy
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Department of Molecular Medicine, Biomedical Science Park San Raffaele, Department of Health and Human Services, Department of Genetics and Molecular Biology, La Sapienza University, 00161 Rome, Italy
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Department of Molecular Medicine, Biomedical Science Park San Raffaele, Department of Health and Human Services, Department of Genetics and Molecular Biology, La Sapienza University, 00161 Rome, Italy
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controlled way. The same technologies, combined with strategies for allele-selective RNA interference, offer an option for attempting gene correction in skeletal stem cells ( Fig. 1D ). The idea of correcting a genetic disease in bone by correcting the
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successful ( Fig. 5 ). Plasma membrane translocation of multipass membrane proteins is often impaired in genetic diseases affecting integral membrane proteins, e.g. in cystic fibrosis or diabetes insipidus. Therapies are being developed to increase the
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Program in Developmental Endocrinology and Genetics, Center for Molecular Medicine and Pediatric Endocrinology Unit, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, CRC, Room 1-3330, 10 Center Drive, MSC 1103, Bethesda, Maryland 20892-1103, USA
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Roles of FGF signaling in skeletal development and human genetic diseases . Frontiers in Bioscience 10 1961 – 1976 . ( doi:10.2741/1671 ). Chen L Adar R Yang X Monsonego EO Li C Hauschka PV Yayon A Deng CX 1999 Gly369Cys mutation
Center for Healthy Aging, Technische Universität Dresden Medical Center, Dresden, Germany
German Cancer Consortium (DKTK), partner site Dresden and German Cancer Research Center (DKFZ), Dresden, Germany
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Center for Healthy Aging, Technische Universität Dresden Medical Center, Dresden, Germany
German Cancer Consortium (DKTK), partner site Dresden and German Cancer Research Center (DKFZ), Dresden, Germany
Center for Regenerative Therapies Dresden, Technische Universität Dresden, Dresden, Germany
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German Cancer Consortium (DKTK), partner site Dresden and German Cancer Research Center (DKFZ), Dresden, Germany
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Center for Healthy Aging, Technische Universität Dresden Medical Center, Dresden, Germany
German Cancer Consortium (DKTK), partner site Dresden and German Cancer Research Center (DKFZ), Dresden, Germany
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.bone.2016.11.027 Wergedal JE Veskovic K Hellan M Nyght C Balemans W Libanati C Vanhoenacker FM Tan J Baylink DJ Van Hul W 2003 Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone
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understood. In this type of patient, normal osmoregulation of plasma Vp was observed and some of them, in particular infants, appear to suffer nephrogenic syndrome of inappropriate antidiuresis, which is a recently described genetic disease caused by V2R
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the cholesterol biosynthetic pathway at the post-squalene level, which have been described in recent years ( Herman 2003 ). These genetic diseases are characterized by major developmental malformations and in most cases determine severe
