Literature DB >> 24635597

Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.

S M Nikkel1, A Ahmed, A Smith, J Marcadier, D E Bulman, K M Boycott.   

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Year:  2013        PMID： 24635597     DOI： 10.1111/cge.12290

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

1.  Triad of human cellular proteins, IRF2, FAM111A, and RFC3, restrict replication of orthopoxvirus SPI-1 host-range mutants.

Authors:  Debasis Panda; Daniel J Fernandez; Madhu Lal; Eugen Buehler; Bernard Moss
Journal:  Proc Natl Acad Sci U S A       Date:  2017-03-20       Impact factor: 11.205

2.  FAM111A is dispensable for electrolyte homeostasis in mice.

Authors:  Barnabas P Ilenwabor; Heidi Schigt; Andreas Kompatscher; Caro Bos; Malou Zuidscherwoude; Bram C J van der Eerden; Joost G J Hoenderop; Jeroen H F de Baaij
Journal:  Sci Rep       Date:  2022-06-17       Impact factor: 4.996

3.  Contribution of DNA Replication to the FAM111A-Mediated Simian Virus 40 Host Range Phenotype.

Authors:  Roxana M Tarnita; Adrian R Wilkie; James A DeCaprio
Journal:  J Virol       Date:  2018-12-10       Impact factor: 5.103

4.  Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.

Authors:  Mary B Abraham; Dong Li; Dave Tang; Susan M O'Connell; Fiona McKenzie; Ee Mun Lim; Hakon Hakonarson; Michael A Levine; Catherine S Choong
Journal:  Int J Pediatr Endocrinol       Date:  2017-01-25

Review 5.  Genetic causes of hypomagnesemia, a clinical overview.

Authors:  Daan H H M Viering; Jeroen H F de Baaij; Stephen B Walsh; Robert Kleta; Detlef Bockenhauer
Journal:  Pediatr Nephrol       Date:  2016-05-27       Impact factor: 3.714

6.  FAM111A protects replication forks from protein obstacles via its trypsin-like domain.

Authors:  Yusuke Kojima; Yuka Machida; Sowmiya Palani; Thomas R Caulfield; Evette S Radisky; Scott H Kaufmann; Yuichi J Machida
Journal:  Nat Commun       Date:  2020-03-12       Impact factor: 14.919

7.  Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

Authors:  Lara Pemberton; Robert Barker; Anna Cockell; Vijaya Ramachandran; Andrea Haworth; Tessa Homfray
Journal:  BMC Med Genet       Date:  2020-01-07       Impact factor: 2.103

8.  FAM111A induces nuclear dysfunction in disease and viral restriction.

Authors:  Minghua Nie; Martina Oravcová; Yasaman Jami-Alahmadi; James A Wohlschlegel; Eros Lazzerini-Denchi; Michael N Boddy
Journal:  EMBO Rep       Date:  2020-12-28       Impact factor: 8.807

9.  Differential Regulation of Cellular FAM111B by Human Adenovirus C Type 5 E1 Oncogenes.

Authors:  Wing-Hang Ip; Britta Wilkens; Anastasia Solomatina; Judith Martin; Michael Melling; Paloma Hidalgo; Luca D Bertzbach; Thomas Speiseder; Thomas Dobner
Journal:  Viruses       Date:  2021-05-28       Impact factor: 5.048

10.  FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.

Authors:  Saskia Hoffmann; Satyakrishna Pentakota; Andreas Mund; Peter Haahr; Fabian Coscia; Marta Gallo; Matthias Mann; Nicholas Mi Taylor; Niels Mailand
Journal:  EMBO Rep       Date:  2020-08-09       Impact factor: 8.807
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