Literature DB >> 33630210

Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.

Angela E Lin1, Nicola Brunetti-Pierri2,3, Bert Callewaert4,5, Valérie Cormier-Daire6, Sofia Douzgou7,8,9, T Bernard Kinane10, Mark E Lindsay11, Lois J Starr12.   

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Year:  2021        PMID： 33630210      PMCID： PMC8110621          DOI： 10.1007/s11357-021-00337-x

Source DB:  PubMed          Journal:  Geroscience        ISSN： 2509-2723            Impact factor:   7.713


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  10 in total

1.  Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

Authors:  Lois J Starr; Dorothy K Grange; Jeffrey W Delaney; Anji T Yetman; James M Hammel; Jennifer N Sanmann; Deborah A Perry; G Bradley Schaefer; Ann Haskins Olney
Journal:  Am J Med Genet A       Date:  2015-09-30       Impact factor: 2.802

Review 2.  The external phenotype of aging.

Authors:  Raoul C M Hennekam
Journal:  Eur J Med Genet       Date:  2020-07-26       Impact factor: 2.708

Review 3.  Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Authors:  Junko Oshima; Fuki M Hisama
Journal:  Gerontology       Date:  2014-01-03       Impact factor: 5.140

Review 4.  How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative.

Authors:  Fuki M Hisama; Junko Oshima; George M Martin
Journal:  Cold Spring Harb Perspect Med       Date:  2016-04-01       Impact factor: 6.915

Review 5.  Pathophysiology of premature aging characteristics in Mendelian progeroid disorders.

Authors:  Raoul C M Hennekam
Journal:  Eur J Med Genet       Date:  2020-08-10       Impact factor: 2.708

6.  SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome.

Authors:  Renuka Kandhaya-Pillai; Deyin Hou; Jiaming Zhang; Xiaomeng Yang; Goli Compoginis; Takayasu Mori; Tamara Tchkonia; George M Martin; Fuki M Hisama; James L Kirkland; Junko Oshima
Journal:  Geroscience       Date:  2021-01-05       Impact factor: 7.713

7.  Novel SMAD4 mutation causing Myhre syndrome.

Authors:  Viviana Caputo; Gianfranco Bocchinfuso; Marco Castori; Alice Traversa; Antonio Pizzuti; Lorenzo Stella; Paola Grammatico; Marco Tartaglia
Journal:  Am J Med Genet A       Date:  2014-04-08       Impact factor: 2.802

8.  Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.

Authors:  Ilse Meerschaut; Aude Beyens; Wouter Steyaert; Riet De Rycke; Katrien Bonte; Tine De Backer; Sandra Janssens; Joseph Panzer; Frank Plasschaert; Daniël De Wolf; Bert Callewaert
Journal:  Am J Med Genet A       Date:  2019-10-09       Impact factor: 2.802

9.  Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Authors:  Caroline Michot; Carine Le Goff; Clémentine Mahaut; Alexandra Afenjar; Alice S Brooks; Philippe M Campeau; Anne Destree; Maja Di Rocco; Dian Donnai; Raoul Hennekam; Delphine Heron; Sébastien Jacquemont; Peter Kannu; Angela E Lin; Sylvie Manouvrier-Hanu; Sahar Mansour; Sandrine Marlin; Ruth McGowan; Helen Murphy; Annick Raas-Rothschild; Marlène Rio; Marleen Simon; Irene Stolte-Dijkstra; James R Stone; Yves Sznajer; John Tolmie; Renaud Touraine; Jenneke van den Ende; Nathalie Van der Aa; Ton van Essen; Alain Verloes; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

10.  Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.

Authors:  Angela E Lin; Abdulrazak Alali; Lois J Starr; Nidhi Shah; Anna Beavis; Elaine M Pereira; Mark E Lindsay; Susan Klugman
Journal:  Am J Med Genet A       Date:  2019-12-14       Impact factor: 2.802
  10 in total

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