Literature DB >> 28132164

A novel MKRN3 nonsense mutation causing familial central precocious puberty.

Athanasios Christoforidis1, Nicos Skordis2,3,4, Pavlos Fanis4, Meropi Dimitriadou5, Maria Sevastidou4, Marie M Phelan6, Vassos Neocleous4, Leonidas A Phylactou4.   

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Year:  2017        PMID： 28132164     DOI： 10.1007/s12020-017-1232-6

Source DB:  PubMed          Journal:  Endocrine        ISSN： 1355-008X            Impact factor:   3.633


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  19 in total

1.  Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls.

Authors:  H S Lee; H-S Jin; Y S Shim; H R Jeong; E Kwon; V Choi; M-C Kim; I-S Chung; S-Y Jeong; J S Hwang
Journal:  Horm Metab Res       Date:  2015-05-04       Impact factor: 2.936

2.  Activation of a primed RING E3-E2-ubiquitin complex by non-covalent ubiquitin.

Authors:  Lori Buetow; Mads Gabrielsen; Nahoum G Anthony; Hao Dou; Amrita Patel; Hazel Aitkenhead; Gary J Sibbet; Brian O Smith; Danny T Huang
Journal:  Mol Cell       Date:  2015-03-19       Impact factor: 17.970

3.  A novel MKRN3 missense mutation causing familial precocious puberty.

Authors:  L de Vries; G Gat-Yablonski; N Dror; A Singer; M Phillip
Journal:  Hum Reprod       Date:  2014-10-14       Impact factor: 6.918

4.  Mutations of the KISS1 gene in disorders of puberty.

Authors:  L G Silveira; S D Noel; A P Silveira-Neto; A P Abreu; V N Brito; M G Santos; S D C Bianco; W Kuohung; S Xu; M Gryngarten; M E Escobar; I J P Arnhold; B B Mendonca; U B Kaiser; A C Latronico
Journal:  J Clin Endocrinol Metab       Date:  2010-03-17       Impact factor: 5.958

5.  Circulating MKRN3 levels decline prior to pubertal onset and through puberty: a longitudinal study of healthy girls.

Authors:  Casper P Hagen; Kaspar Sørensen; Mikkel G Mieritz; Trine Holm Johannsen; Kristian Almstrup; Anders Juul
Journal:  J Clin Endocrinol Metab       Date:  2015-02-19       Impact factor: 5.958

6.  Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene.

Authors:  Nikolaos Settas; Catherine Dacou-Voutetakis; Maria Karantza; Christina Kanaka-Gantenbein; George P Chrousos; Antonis Voutetakis
Journal:  J Clin Endocrinol Metab       Date:  2014-01-17       Impact factor: 5.958

7.  Familial central precocious puberty suggests autosomal dominant inheritance.

Authors:  Liat de Vries; Arieh Kauschansky; Mordechai Shohat; Moshe Phillip
Journal:  J Clin Endocrinol Metab       Date:  2004-04       Impact factor: 5.958

8.  A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.

Authors:  Johanna Känsäkoski; Taneli Raivio; Anders Juul; Johanna Tommiska
Journal:  Pediatr Res       Date:  2015-09-02       Impact factor: 3.756

9.  Central precocious puberty caused by mutations in the imprinted gene MKRN3.

Authors:  Ana Paula Abreu; Andrew Dauber; Delanie B Macedo; Sekoni D Noel; Vinicius N Brito; John C Gill; Priscilla Cukier; Iain R Thompson; Victor M Navarro; Priscila C Gagliardi; Tânia Rodrigues; Cristiane Kochi; Carlos Alberto Longui; Dominique Beckers; Francis de Zegher; Luciana R Montenegro; Berenice B Mendonca; Rona S Carroll; Joel N Hirschhorn; Ana Claudia Latronico; Ursula B Kaiser
Journal:  N Engl J Med       Date:  2013-06-05       Impact factor: 91.245

10.  A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene.

Authors:  Anna Grandone; Grazia Cantelmi; Grazia Cirillo; Pierluigi Marzuillo; Caterina Luongo; Emanuele Miraglia del Giudice; Laura Perrone
Journal:  BMC Endocr Disord       Date:  2015-10-23       Impact factor: 2.763
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  9 in total

Review 1.  The Emerging Role of Chromatin Remodeling Factors in Female Pubertal Development.

Authors:  Carlos Francisco Aylwin; Katinka Vigh-Conrad; Alejandro Lomniczi
Journal:  Neuroendocrinology       Date:  2019-02-07       Impact factor: 4.914

Review 2.  Hypothalamic epigenetics driving female puberty.

Authors:  C A Toro; C F Aylwin; A Lomniczi
Journal:  J Neuroendocrinol       Date:  2018-07       Impact factor: 3.627

3.  MKRN3 levels in girls with central precocious puberty and correlation with sexual hormone levels: a pilot study.

Authors:  Anna Grandone; Grazia Cirillo; Marcella Sasso; Carlo Capristo; Gianluca Tornese; Pierluigi Marzuillo; Caterina Luongo; Giuseppina Rosaria Umano; Adalgisa Festa; Ruggero Coppola; Emanuele Miraglia Del Giudice; Laura Perrone
Journal:  Endocrine       Date:  2017-03-15       Impact factor: 3.633

Review 4.  Genetic causes of central precocious puberty.

Authors:  Toshihiro Tajima
Journal:  Clin Pediatr Endocrinol       Date:  2022-05-29

Review 5.  Genetics of pubertal timing.

Authors:  Jia Zhu; Temitope O Kusa; Yee-Ming Chan
Journal:  Curr Opin Pediatr       Date:  2018-08       Impact factor: 2.856

Review 6.  Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.

Authors:  Maki Fukami; Mami Miyado
Journal:  Ann Pediatr Endocrinol Metab       Date:  2017-06-28

7.  Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the Imprinted MKRN3 Gene.

Authors:  Pavlos Fanis; Nicos Skordis; Meropi Toumba; Nikoletta Papaioannou; Anestis Makris; Andreas Kyriakou; Vassos Neocleous; Leonidas A Phylactou
Journal:  Front Endocrinol (Lausanne)       Date:  2019-10-04       Impact factor: 5.555

8.  Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.

Authors:  Vassos Neocleous; Pavlos Fanis; Meropi Toumba; Barbara Gorka; Ioanna Kousiappa; George A Tanteles; Michalis Iasonides; Nicolas C Nicolaides; Yiolanda P Christou; Kyriaki Michailidou; Stella Nicolaou; Savvas S Papacostas; Athanasios Christoforidis; Andreas Kyriakou; Dimitrios Vlachakis; Nicos Skordis; Leonidas A Phylactou
Journal:  Front Endocrinol (Lausanne)       Date:  2021-09-24       Impact factor: 5.555

9.  A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report.

Authors:  Meijuan Liu; Lijun Fan; Chun Xiu Gong
Journal:  Medicine (Baltimore)       Date:  2020-09-18       Impact factor: 1.817
  9 in total

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