Literature DB >> 19415813

An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes.

S Balci, O Engiz, A Erekul, S Gozdasoglu, T Vulliamy.   

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Year:  2009        PMID： 19415813     DOI： 10.1111/j.1468-3083.2008.02985.x

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  6 in total

Review 1.  Functional roles of Grainyhead-like transcription factors in renal development and disease.

Authors:  Felix J Boivin; Kai M Schmidt-Ott
Journal:  Pediatr Nephrol       Date:  2018-12-15       Impact factor: 3.714

2.  GRHL2 Is Required for Collecting Duct Epithelial Barrier Function and Renal Osmoregulation.

Authors:  Christian Hinze; Janett Ruffert; Katharina Walentin; Nina Himmerkus; Elham Nikpey; Olav Tenstad; Helge Wiig; Kerim Mutig; Zeliha Yesim Yurtdas; Janet D Klein; Jeff M Sands; Federica Branchi; Michael Schumann; Sebastian Bachmann; Markus Bleich; Kai M Schmidt-Ott
Journal:  J Am Soc Nephrol       Date:  2017-12-13       Impact factor: 10.121

Review 3.  Telomere replication: poised but puzzling.

Authors:  Shilpa Sampathi; Weihang Chai
Journal:  J Cell Mol Med       Date:  2011-01       Impact factor: 5.310

4.  A case of dyskeratosis congenita with primary amenorrhea and adenocarcinoma of stomach.

Authors:  Nandini Chakrabarti; Nilendu Sarma; Chandan Chattopadhyay; Atanu Roy Chowdhuri; Chanchal Das; Salil K Pal
Journal:  Indian J Dermatol       Date:  2011 Sep-Oct       Impact factor: 1.494

Review 5.  Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Authors:  Moisés Ó Fiesco-Roa; Benilde García-de Teresa; Paula Leal-Anaya; Renée van 't Hek; Talia Wegman-Ostrosky; Sara Frías; Alfredo Rodríguez
Journal:  Front Oncol       Date:  2022-08-25       Impact factor: 5.738

6.  Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Authors:  Amanda J Walne; Laura Collopy; Shirleny Cardoso; Alicia Ellison; Vincent Plagnol; Canan Albayrak; Davut Albayrak; Sara Sebnem Kilic; Turkan Patıroglu; Haluk Akar; Keith Godfrey; Tina Carter; Makia Marafie; Ajay Vora; Mikael Sundin; Thomas Vulliamy; Hemanth Tummala; Inderjeet Dokal
Journal:  Haematologica       Date:  2016-09-09       Impact factor: 9.941
  6 in total

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