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Literature DB >> 26702851

Genomic insights into growth and its disorders: an update.

Abstract

PURPOSE OF REVIEW: This article provides an update of the most striking new developments in the field of growth genetics over the past 12 months. RECENT
FINDINGS: A number of large genome-wide association studies have identified new genetic loci and pathways associated to human growth and adult height as well as related traits and comorbidities. New genetic causes of primordial dwarfism and several short stature syndromes have been elucidated. Moreover, a breakthrough finding of Xq26 microduplications as a cause of pituitary gigantism was made. Several new developments in imprinted growth-related genes (including the first human mutation in insulin-like growth factor II) and novel insights into the epigenetic regulation of growth have been reported.
SUMMARY: Genomic investigations continue to provide new insights into the genetic basis of human growth as well as its disorders.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2016 PMID： 26702851 PMCID： PMC4733875 DOI： 10.1097/MED.0000000000000209

Source DB: PubMed Journal: Curr Opin Endocrinol Diabetes Obes ISSN： 1752-296X Impact factor: 3.243

30 in total

1. MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

Authors: Michelle A Wood-Trageser; Fatih Gurbuz; Svetlana A Yatsenko; Elizabeth P Jeffries; L Damla Kotan; Urvashi Surti; Deborah M Ketterer; Jelena Matic; Jacqueline Chipkin; Huaiyang Jiang; Michael A Trakselis; A Kemal Topaloglu; Aleksandar Rajkovic
Journal: Am J Hum Genet Date: 2014-12-04 Impact factor: 11.025

2. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.

Authors: Jose Bernardo Quintos; Michael H Guo; Andrew Dauber
Journal: J Pediatr Endocrinol Metab Date: 2015-07 Impact factor: 1.634

3. An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

Authors: Christiaan de Bruin; Verónica Mericq; Shayne F Andrew; Hermine A van Duyvenvoorde; Nicole S Verkaik; Monique Losekoot; Aleksey Porollo; Hernán Garcia; Yi Kuang; Dan Hanson; Peter Clayton; Dik C van Gent; Jan M Wit; Vivian Hwa; Andrew Dauber
Journal: J Clin Endocrinol Metab Date: 2015-03-05 Impact factor: 5.958

4. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

Authors: Giampaolo Trivellin; Adrian F Daly; Fabio R Faucz; Bo Yuan; Liliya Rostomyan; Darwin O Larco; Marie Helene Schernthaner-Reiter; Eva Szarek; Letícia F Leal; Jean-Hubert Caberg; Emilie Castermans; Chiara Villa; Aggeliki Dimopoulos; Prashant Chittiboina; Paraskevi Xekouki; Nalini Shah; Daniel Metzger; Philippe A Lysy; Emanuele Ferrante; Natalia Strebkova; Nadia Mazerkina; Maria Chiara Zatelli; Maya Lodish; Anelia Horvath; Rodrigo Bertollo de Alexandre; Allison D Manning; Isaac Levy; Margaret F Keil; Maria de la Luz Sierra; Leonor Palmeira; Wouter Coppieters; Michel Georges; Luciana A Naves; Mauricette Jamar; Vincent Bours; T John Wu; Catherine S Choong; Jerome Bertherat; Philippe Chanson; Peter Kamenický; William E Farrell; Anne Barlier; Martha Quezado; Ivana Bjelobaba; Stanko S Stojilkovic; Jurgen Wess; Stefano Costanzi; Pengfei Liu; James R Lupski; Albert Beckers; Constantine A Stratakis
Journal: N Engl J Med Date: 2014-12-03 Impact factor: 91.245

5. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Authors: Cynthia F Bartels; Hulya Bükülmez; Pius Padayatti; David K Rhee; Conny van Ravenswaaij-Arts; Richard M Pauli; Stefan Mundlos; David Chitayat; Ling-Yu Shih; Lihadh I Al-Gazali; Sarina Kant; Trevor Cole; Jenny Morton; Valérie Cormier-Daire; Laurence Faivre; Melissa Lees; Jeremy Kirk; Geert R Mortier; Jules Leroy; Bernhard Zabel; Chong Ae Kim; Yanick Crow; Nancy E Braverman; Focco van den Akker; Matthew L Warman
Journal: Am J Hum Genet Date: 2004-05-14 Impact factor: 11.025

6. Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism.

Authors: Daniel J Wendt; Melita Dvorak-Ewell; Sherry Bullens; Florence Lorget; Sean M Bell; Jeff Peng; Sianna Castillo; Mika Aoyagi-Scharber; Charles A O'Neill; Pavel Krejci; William R Wilcox; David L Rimoin; Stuart Bunting
Journal: J Pharmacol Exp Ther Date: 2015-02-03 Impact factor: 4.030

7. The P2 promoter of the IGF1 gene is a major epigenetic locus for GH responsiveness.

Authors: M Ouni; M P Belot; A L Castell; D Fradin; P Bougnères
Journal: Pharmacogenomics J Date: 2015-04-14 Impact factor: 3.550

8. Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis.

Authors: Eveline Nüesch; Caroline Dale; Tom M Palmer; Jon White; Brendan J Keating; Erik Pa van Iperen; Anuj Goel; Sandosh Padmanabhan; Folkert W Asselbergs; W M Verschuren; C Wijmenga; Y T Van der Schouw; N C Onland-Moret; Leslie A Lange; G K Hovingh; Suthesh Sivapalaratnam; Richard W Morris; Peter H Whincup; Goya S Wannamethe; Tom R Gaunt; Shah Ebrahim; Laura Steel; Nikhil Nair; Alexander P Reiner; Charles Kooperberg; James F Wilson; Jennifer L Bolton; Stela McLachlan; Jacqueline F Price; Mark Wj Strachan; Christine M Robertson; Marcus E Kleber; Graciela Delgado; Winfried März; Olle Melander; Anna F Dominiczak; Martin Farrall; Hugh Watkins; Maarten Leusink; Anke H Maitland-van der Zee; Mark Ch de Groot; Frank Dudbridge; Aroon Hingorani; Yoav Ben-Shlomo; Debbie A Lawlor; A Amuzu; M Caufield; A Cavadino; J Cooper; T L Davies; F Drenos; J Engmann; C Finan; C Giambartolomei; R Hardy; S E Humphries; E Hypponen; M Kivimaki; D Kuh; M Kumari; K Ong; V Plagnol; C Power; M Richards; S Shah; T Shah; R Sofat; P J Talmud; N Wareham; H Warren; J C Whittaker; A Wong; D Zabaneh; George Davey Smith; Jonathan C Wells; David A Leon; Michael V Holmes; Juan P Casas
Journal: Int J Epidemiol Date: 2016-12-01 Impact factor: 7.196

9. Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

Authors: Felicity Payne; Rita Colnaghi; Nuno Rocha; Asha Seth; Julie Harris; Gillian Carpenter; William E Bottomley; Eleanor Wheeler; Stephen Wong; Vladimir Saudek; David Savage; Stephen O'Rahilly; Jean-Claude Carel; Inês Barroso; Mark O'Driscoll; Robert Semple
Journal: J Clin Invest Date: 2014-08-08 Impact factor: 14.808

10. A novel common variant in DCST2 is associated with length in early life and height in adulthood.

Authors: Ralf J P van der Valk; Eskil Kreiner-Møller; Marjolein N Kooijman; Mònica Guxens; Evangelia Stergiakouli; Annika Sääf; Jonathan P Bradfield; Frank Geller; M Geoffrey Hayes; Diana L Cousminer; Antje Körner; Elisabeth Thiering; John A Curtin; Ronny Myhre; Ville Huikari; Raimo Joro; Marjan Kerkhof; Nicole M Warrington; Niina Pitkänen; Ioanna Ntalla; Momoko Horikoshi; Riitta Veijola; Rachel M Freathy; Yik-Ying Teo; Sheila J Barton; David M Evans; John P Kemp; Beate St Pourcain; Susan M Ring; George Davey Smith; Anna Bergström; Inger Kull; Hakon Hakonarson; Frank D Mentch; Hans Bisgaard; Bo Chawes; Jakob Stokholm; Johannes Waage; Patrick Eriksen; Astrid Sevelsted; Mads Melbye; Cornelia M van Duijn; Carolina Medina-Gomez; Albert Hofman; Johan C de Jongste; H Rob Taal; André G Uitterlinden; Loren L Armstrong; Johan Eriksson; Aarno Palotie; Mariona Bustamante; Xavier Estivill; Juan R Gonzalez; Sabrina Llop; Wieland Kiess; Anubha Mahajan; Claudia Flexeder; Carla M T Tiesler; Clare S Murray; Angela Simpson; Per Magnus; Verena Sengpiel; Anna-Liisa Hartikainen; Sirkka Keinanen-Kiukaanniemi; Alexandra Lewin; Alexessander Da Silva Couto Alves; Alexandra I Blakemore; Jessica L Buxton; Marika Kaakinen; Alina Rodriguez; Sylvain Sebert; Marja Vaarasmaki; Timo Lakka; Virpi Lindi; Ulrike Gehring; Dirkje S Postma; Wei Ang; John P Newnham; Leo-Pekka Lyytikäinen; Katja Pahkala; Olli T Raitakari; Kalliope Panoutsopoulou; Eleftheria Zeggini; Dorret I Boomsma; Maria Groen-Blokhuis; Jorma Ilonen; Lude Franke; Joel N Hirschhorn; Tune H Pers; Liming Liang; Jinyan Huang; Berthold Hocher; Mikael Knip; Seang-Mei Saw; John W Holloway; Erik Melén; Struan F A Grant; Bjarke Feenstra; William L Lowe; Elisabeth Widén; Elena Sergeyev; Harald Grallert; Adnan Custovic; Bo Jacobsson; Marjo-Riitta Jarvelin; Mustafa Atalay; Gerard H Koppelman; Craig E Pennell; Harri Niinikoski; George V Dedoussis; Mark I Mccarthy; Timothy M Frayling; Jordi Sunyer; Nicholas J Timpson; Fernando Rivadeneira; Klaus Bønnelykke; Vincent W V Jaddoe
Journal: Hum Mol Genet Date: 2014-10-03 Impact factor: 6.150

4 in total