Literature DB >> 19760650

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.

Danuta Z Loesch1, David E Godler, Mahmoud Khaniani, Emma Gould, Freya Gehling, Cheryl Dissanayake, Trent Burgess, Flora Tassone, Richard Huggins, Howard Slater, K H Andy Choo.   

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Year:  2009        PMID： 19760650      PMCID： PMC4154630          DOI： 10.1002/ajmg.a.32990

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  29 in total

Review 1.  Signalling shutdown strategies in aging immune cells.

Authors:  Khurram Ayub; Maurice B Hallett
Journal:  Aging Cell       Date:  2004-08       Impact factor: 9.304

2.  A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots.

Authors:  J J Holden; M Chalifoux; M Wing; C Julien-Inalsingh; B N White
Journal:  Am J Med Genet       Date:  1996-08-09

3.  Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation.

Authors:  Faraz Farzin; Hazel Perry; David Hessl; Danuta Loesch; Jonathan Cohen; Susan Bacalman; Louise Gane; Flora Tassone; Paul Hagerman; Randi Hagerman
Journal:  J Dev Behav Pediatr       Date:  2006-04       Impact factor: 2.225

4.  Dnmt1 overexpression causes genomic hypermethylation, loss of imprinting, and embryonic lethality.

Authors:  Detlev Biniszkiewicz; Joost Gribnau; Bernard Ramsahoye; François Gaudet; Kevin Eggan; David Humpherys; Mary-Ann Mastrangelo; Zhan Jun; Jörn Walter; Rudolf Jaenisch
Journal:  Mol Cell Biol       Date:  2002-04       Impact factor: 4.272

5.  Nicotine and attention in adult attention deficit hyperactivity disorder (ADHD).

Authors:  C K Conners; E D Levin; E Sparrow; S C Hinton; D Erhardt; W H Meck; J E Rose; J March
Journal:  Psychopharmacol Bull       Date:  1996

6.  Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine.

Authors:  Roberta Pietrobono; Maria Grazia Pomponi; Elisabetta Tabolacci; Ben Oostra; Pietro Chiurazzi; Giovanni Neri
Journal:  Nucleic Acids Res       Date:  2002-07-15       Impact factor: 16.971

7.  Epigenetics and Neural developmental disorders: Washington DC, September 18 and 19, 2006.

Authors:  Xinyu Zhao; ChangHui Pak; Richard D Smrt; Peng Jin
Journal:  Epigenetics       Date:  2007-04-30       Impact factor: 4.528

Review 8.  Phenotypic variation and FMRP levels in fragile X.

Authors:  Danuta Z Loesch; Richard M Huggins; Randi J Hagerman
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2004

9.  Lifespan changes in working memory in fragile X premutation males.

Authors:  Kim M Cornish; Cary S Kogan; Lexin Li; Jeremy Turk; Sebastien Jacquemont; Randi J Hagerman
Journal:  Brain Cogn       Date:  2008-12-27       Impact factor: 2.310

10.  Investigating the relationship between FMR1 allele length and cognitive ability in children: a subtle effect of the normal allele range on the normal ability range?

Authors:  C S Loat; G Craig; R Plomin; I W Craig
Journal:  Ann Hum Genet       Date:  2006-09       Impact factor: 1.670
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  12 in total

Review 1.  Advanced technologies for the molecular diagnosis of fragile X syndrome.

Authors:  Flora Tassone
Journal:  Expert Rev Mol Diagn       Date:  2015-10-21       Impact factor: 5.225

2.  Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.

Authors:  Weerasak Chonchaiya; Jacky Au; Andrea Schneider; David Hessl; Susan W Harris; Meredith Laird; Yi Mu; Flora Tassone; Danh V Nguyen; Randi J Hagerman
Journal:  Hum Genet       Date:  2011-10-15       Impact factor: 4.132

3.  Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

Authors:  Irene Madrigal; Mar Xunclà; Maria Isabel Tejada; Francisco Martínez; Isabel Fernández-Carvajal; Luís Alberto Pérez-Jurado; Laia Rodriguez-Revenga; Montserrat Milà
Journal:  Eur J Hum Genet       Date:  2011-03-23       Impact factor: 4.246

4.  Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study.

Authors:  Flora Tassone; Nimrah S Choudhary; Federica Tassone; Blythe Durbin-Johnson; Robin Hansen; Irva Hertz-Picciotto; Isaac Pessah
Journal:  J Autism Dev Disord       Date:  2013-03

Review 5.  Unstable mutations in the FMR1 gene and the phenotypes.

Authors:  Danuta Loesch; Randi Hagerman
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

6.  Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.

Authors:  Sarah M Debrey; Maureen A Leehey; Olga Klepitskaya; Christopher M Filley; Raj C Shah; Benzi Kluger; Elizabeth Berry-Kravis; Elaine Spector; Flora Tassone; Deborah A Hall
Journal:  Cerebellum       Date:  2016-10       Impact factor: 3.847

7.  Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.

Authors:  David E Godler; Yoshimi Inaba; Elva Z Shi; Cindy Skinner; Quang M Bui; David Francis; David J Amor; John L Hopper; Danuta Z Loesch; Randi J Hagerman; Charles E Schwartz; Howard R Slater
Journal:  Hum Mol Genet       Date:  2013-01-10       Impact factor: 6.150

8.  Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.

Authors:  Brenda Finucane; Liane Abrams; Amy Cronister; Alison D Archibald; Robin L Bennett; Allyn McConkie-Rosell
Journal:  J Genet Couns       Date:  2012-07-14       Impact factor: 2.537

9.  Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.

Authors:  Danuta Z Loesch; David E Godler; Andrew Evans; Quang M Bui; Freya Gehling; Katya E Kotschet; Nicholas Trost; Elsdon Storey; Paige Stimpson; Glynda Kinsella; David Francis; David R Thorburn; Alison Venn; Howard R Slater; Malcolm Horne
Journal:  Genet Med       Date:  2011-05       Impact factor: 8.822

Review 10.  Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders.

Authors:  Karen Usdin; Bruce E Hayward; Daman Kumari; Rachel A Lokanga; Nicholas Sciascia; Xiao-Nan Zhao
Journal:  Front Genet       Date:  2014-07-17       Impact factor: 4.599
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