Literature DB >> 28476223

Genetics of Short Stature.

Youn Hee Jee1, Anenisia C Andrade2, Jeffrey Baron3, Ola Nilsson4.   

Abstract

Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of the underlying molecular mechanisms of longitudinal bone growth and growth failure. Identifying new genetic causes of growth disorders has the potential to improve diagnosis, prognostic accuracy, and individualized management, and help avoid unnecessary testing for endocrine and other disorders. Published by Elsevier Inc.

Entities:  

Keywords:  Exome sequencing; Genetic causes; Genome-wide association study; Growth plate; Short stature

Mesh:

Year:  2017        PMID: 28476223      PMCID: PMC5424617          DOI: 10.1016/j.ecl.2017.01.001

Source DB:  PubMed          Journal:  Endocrinol Metab Clin North Am        ISSN: 0889-8529            Impact factor:   4.741


  147 in total

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Journal:  Exp Cell Res       Date:  2005-08-01       Impact factor: 3.905

2.  De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.

Authors:  M Roifman; C L M Marcelis; T Paton; C Marshall; R Silver; J L Lohr; H G Yntema; H Venselaar; H Kayserili; B van Bon; G Seaward; H G Brunner; D Chitayat
Journal:  Clin Genet       Date:  2014-05-24       Impact factor: 4.438

3.  Altered heparan sulfate structure in Glce(-/-) mice leads to increased Hedgehog signaling in endochondral bones.

Authors:  Tabea Dierker; Velina Bachvarova; Yvonne Krause; Jin-Ping Li; Lena Kjellén; Daniela G Seidler; Andrea Vortkamp
Journal:  Matrix Biol       Date:  2015-06-24       Impact factor: 11.583

Review 4.  Endocrine implications of neurofibromatosis 1 in childhood.

Authors:  Carla Bizzarri; Giorgia Bottaro
Journal:  Horm Res Paediatr       Date:  2015-02-05       Impact factor: 2.852

5.  Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.

Authors:  Marie-Hélène Gannagé-Yared; Jürgen Klammt; Eliane Chouery; Sandra Corbani; Hala Mégarbané; Joelle Abou Ghoch; Nancy Choucair; Roland Pfäffle; André Mégarbané
Journal:  Eur J Endocrinol       Date:  2012-12-10       Impact factor: 6.664

Review 6.  When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.

Authors:  Giovanni Messina; Maria Teresa Atterrato; Patrizio Dimitri
Journal:  J Med Genet       Date:  2016-04-26       Impact factor: 6.318

7.  The Biology of Stature.

Authors:  Youn Hee Jee; Jeffrey Baron
Journal:  J Pediatr       Date:  2016-03-26       Impact factor: 4.406

8.  Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Authors:  Iris H I M Hollink; Majid Alfadhel; Anwar S Al-Wakeel; Farough Ababneh; Rolph Pfundt; Stella A de Man; Rami Abou Jamra; Arndt Rolfs; Aida M Bertoli-Avella; Ingrid M B H van de Laar
Journal:  J Hum Genet       Date:  2015-11-26       Impact factor: 3.172

9.  Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

Authors:  Katarina Lehmann; Petra Seemann; Sigmar Stricker; Marai Sammar; Birgit Meyer; Katrin Süring; Frank Majewski; Sigrid Tinschert; Karl-Heinz Grzeschik; Dietmar Müller; Petra Knaus; Peter Nürnberg; Stefan Mundlos
Journal:  Proc Natl Acad Sci U S A       Date:  2003-10-01       Impact factor: 11.205

Review 10.  Leopard syndrome.

Authors:  Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2008-05-27       Impact factor: 4.123

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  8 in total

Review 1.  New developments in the genetic diagnosis of short stature.

Authors:  Youn Hee Jee; Jeffrey Baron; Ola Nilsson
Journal:  Curr Opin Pediatr       Date:  2018-08       Impact factor: 2.856

2.  Metabolomic Differential Compounds Reflecting the Clinical Efficacy of Polyethylene Glycol Recombinant Human Growth Hormone in the Treatment of Childhood Growth Hormone Deficiency.

Authors:  Ji Li; Weiwei Pan; Jianqin Qian; Yan Ni; Junfen Fu; Shaoqing Ni
Journal:  Front Pharmacol       Date:  2022-04-27       Impact factor: 5.988

3.  Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Authors:  Tiong Yang Tan; Claudia Gonzaga-Jauregui; Elizabeth J Bhoj; Kevin A Strauss; Karlla Brigatti; Erik Puffenberger; Dong Li; LiQin Xie; Nanditha Das; Ioanna Skubas; Ron A Deckelbaum; Virginia Hughes; Susannah Brydges; Sarah Hatsell; Chia-Jen Siao; Melissa G Dominguez; Aris Economides; John D Overton; Valerie Mayne; Peter J Simm; Bryn O Jones; Stefanie Eggers; Gwenaël Le Guyader; Fanny Pelluard; Tobias B Haack; Marc Sturm; Angelika Riess; Stephan Waldmueller; Michael Hofbeck; Katharina Steindl; Pascal Joset; Anita Rauch; Hakon Hakonarson; Naomi L Baker; Peter G Farlie
Journal:  Am J Hum Genet       Date:  2017-11-30       Impact factor: 11.025

4.  Genetic regulation of linear growth.

Authors:  Shanna Yue; Philip Whalen; Youn Hee Jee
Journal:  Ann Pediatr Endocrinol Metab       Date:  2019-03-31

5.  Longitudinal Bone Growth Stimulating Effect of Allium macrostemon in Adolescent Female Rats.

Authors:  Hyung-Joong Kim; Sun Haeng Lee; Sung Hyun Lee; Jihong Lee; Hocheol Kim; Gyu Tae Chang; Donghun Lee
Journal:  Molecules       Date:  2020-11-21       Impact factor: 4.411

6.  Altered DNA methylation at age-associated CpG sites in children with growth disorders: impact on age estimation?

Authors:  F Mayer; J Becker; C Reinauer; P Böhme; S B Eickhoff; B Koop; T Gündüz; J Blum; W Wagner; S Ritz-Timme
Journal:  Int J Legal Med       Date:  2022-05-12       Impact factor: 2.791

7.  Genetic Regulation of Adult Stature in Humans.

Authors:  Allen W Root
Journal:  J Clin Endocrinol Metab       Date:  2020-07-01       Impact factor: 5.958

8.  Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.

Authors:  Ehsan Razmara; Homeyra Azimi; Amirreza Bitaraf; Mohammad Ali Daneshmand; Mohammad Galehdari; Maryam Dokhanchi; Elika Esmaeilzadeh-Gharehdaghi; Masoud Garshasbi
Journal:  Mol Genet Genomic Med       Date:  2020-01-15       Impact factor: 2.183

  8 in total

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