Literature DB >> 26168855

The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.

Illana Gozes1, Celine Helsmoortel2, Geert Vandeweyer2, Nathalie Van der Aa2, Frank Kooy3, Sandra Bedrosian-Sermone4.   

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Year:  2015        PMID： 26168855     DOI： 10.1007/s12031-015-0586-6

Source DB:  PubMed          Journal:  J Mol Neurosci        ISSN： 0895-8696            Impact factor:   3.444


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  20 in total

1.  Activity-dependent neuroprotective protein (ADNP) differentially interacts with chromatin to regulate genes essential for embryogenesis.

Authors:  Shmuel Mandel; Gideon Rechavi; Illana Gozes
Journal:  Dev Biol       Date:  2006-12-01       Impact factor: 3.582

2.  ADNP: A major autism mutated gene is differentially distributed (age and gender) in the songbird brain.

Authors:  Gal Hacohen Kleiman; Anat Barnea; Illana Gozes
Journal:  Peptides       Date:  2015-04-17       Impact factor: 3.750

3.  Cloning and characterization of the human activity-dependent neuroprotective protein.

Authors:  R Zamostiano; A Pinhasov; E Gelber; R A Steingart; E Seroussi; E Giladi; M Bassan; Y Wollman; H J Eyre; J C Mulley; D E Brenneman; I Gozes
Journal:  J Biol Chem       Date:  2001-01-05       Impact factor: 5.157

4.  Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

Authors:  Brian J O'Roak; Laura Vives; Wenqing Fu; Jarrett D Egertson; Ian B Stanaway; Ian G Phelps; Gemma Carvill; Akash Kumar; Choli Lee; Katy Ankenman; Jeff Munson; Joseph B Hiatt; Emily H Turner; Roie Levy; Diana R O'Day; Niklas Krumm; Bradley P Coe; Beth K Martin; Elhanan Borenstein; Deborah A Nickerson; Heather C Mefford; Dan Doherty; Joshua M Akey; Raphael Bernier; Evan E Eichler; Jay Shendure
Journal:  Science       Date:  2012-11-15       Impact factor: 47.728

5.  Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer's pathologies.

Authors:  A Malishkevich; N Amram; G Hacohen-Kleiman; I Magen; E Giladi; I Gozes
Journal:  Transl Psychiatry       Date:  2015-02-03       Impact factor: 6.222

6.  Synaptic, transcriptional and chromatin genes disrupted in autism.

Authors:  Silvia De Rubeis; Xin He; Arthur P Goldberg; Christopher S Poultney; Kaitlin Samocha; A Erucment Cicek; Yan Kou; Li Liu; Menachem Fromer; Susan Walker; Tarinder Singh; Lambertus Klei; Jack Kosmicki; Fu Shih-Chen; Branko Aleksic; Monica Biscaldi; Patrick F Bolton; Jessica M Brownfeld; Jinlu Cai; Nicholas G Campbell; Angel Carracedo; Maria H Chahrour; Andreas G Chiocchetti; Hilary Coon; Emily L Crawford; Sarah R Curran; Geraldine Dawson; Eftichia Duketis; Bridget A Fernandez; Louise Gallagher; Evan Geller; Stephen J Guter; R Sean Hill; Juliana Ionita-Laza; Patricia Jimenz Gonzalez; Helena Kilpinen; Sabine M Klauck; Alexander Kolevzon; Irene Lee; Irene Lei; Jing Lei; Terho Lehtimäki; Chiao-Feng Lin; Avi Ma'ayan; Christian R Marshall; Alison L McInnes; Benjamin Neale; Michael J Owen; Noriio Ozaki; Mara Parellada; Jeremy R Parr; Shaun Purcell; Kaija Puura; Deepthi Rajagopalan; Karola Rehnström; Abraham Reichenberg; Aniko Sabo; Michael Sachse; Stephan J Sanders; Chad Schafer; Martin Schulte-Rüther; David Skuse; Christine Stevens; Peter Szatmari; Kristiina Tammimies; Otto Valladares; Annette Voran; Wang Li-San; Lauren A Weiss; A Jeremy Willsey; Timothy W Yu; Ryan K C Yuen; Edwin H Cook; Christine M Freitag; Michael Gill; Christina M Hultman; Thomas Lehner; Aaarno Palotie; Gerard D Schellenberg; Pamela Sklar; Matthew W State; James S Sutcliffe; Christiopher A Walsh; Stephen W Scherer; Michael E Zwick; Jeffrey C Barett; David J Cutler; Kathryn Roeder; Bernie Devlin; Mark J Daly; Joseph D Buxbaum
Journal:  Nature       Date:  2014-10-29       Impact factor: 49.962

7.  The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

Authors:  Geert Vandeweyer; Céline Helsmoortel; Anke Van Dijck; Anneke T Vulto-van Silfhout; Bradley P Coe; Raphael Bernier; Jennifer Gerdts; Liesbeth Rooms; Jenneke van den Ende; Madhura Bakshi; Meredith Wilson; Ann Nordgren; Laura G Hendon; Omar A Abdulrahman; Corrado Romano; Bert B A de Vries; Tjitske Kleefstra; Evan E Eichler; Nathalie Van der Aa; R Frank Kooy
Journal:  Am J Med Genet C Semin Med Genet       Date:  2014-08-28       Impact factor: 3.908

8.  A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

Authors:  Céline Helsmoortel; Anneke T Vulto-van Silfhout; Bradley P Coe; Geert Vandeweyer; Liesbeth Rooms; Jenneke van den Ende; Janneke H M Schuurs-Hoeijmakers; Carlo L Marcelis; Marjolein H Willemsen; Lisenka E L M Vissers; Helger G Yntema; Madhura Bakshi; Meredith Wilson; Kali T Witherspoon; Helena Malmgren; Ann Nordgren; Göran Annerén; Marco Fichera; Paolo Bosco; Corrado Romano; Bert B A de Vries; Tjitske Kleefstra; R Frank Kooy; Evan E Eichler; Nathalie Van der Aa
Journal:  Nat Genet       Date:  2014-02-16       Impact factor: 38.330

9.  Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Authors:  Bradley P Coe; Kali Witherspoon; Jill A Rosenfeld; Bregje W M van Bon; Anneke T Vulto-van Silfhout; Paolo Bosco; Kathryn L Friend; Carl Baker; Serafino Buono; Lisenka E L M Vissers; Janneke H Schuurs-Hoeijmakers; Alex Hoischen; Rolph Pfundt; Nik Krumm; Gemma L Carvill; Deana Li; David Amaral; Natasha Brown; Paul J Lockhart; Ingrid E Scheffer; Antonino Alberti; Marie Shaw; Rosa Pettinato; Raymond Tervo; Nicole de Leeuw; Margot R F Reijnders; Beth S Torchia; Hilde Peeters; Brian J O'Roak; Marco Fichera; Jayne Y Hehir-Kwa; Jay Shendure; Heather C Mefford; Eric Haan; Jozef Gécz; Bert B A de Vries; Corrado Romano; Evan E Eichler
Journal:  Nat Genet       Date:  2014-09-14       Impact factor: 38.330

10.  Large-scale discovery of novel genetic causes of developmental disorders.

Authors: 
Journal:  Nature       Date:  2014-12-24       Impact factor: 69.504
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  21 in total

1.  International Meeting Molecular Neurodegeneration: News and Views in Molecular Neuroscience in Health and Disease. Delmenhorst, Germany, July 20-22, 2015.

Authors:  Illana Gozes; Peter W Baas; Christiane Richter-Landsberg
Journal:  J Mol Neurosci       Date:  2015-10       Impact factor: 3.444

2.  ADNP/ADNP2 expression in oligodendrocytes: implication for myelin-related neurodevelopment.

Authors:  Anna Malishkevich; Janina Leyk; Olaf Goldbaum; Christiane Richter-Landsberg; Illana Gozes
Journal:  J Mol Neurosci       Date:  2015-10       Impact factor: 3.444

3.  Tau Diagnostics and Clinical Studies.

Authors:  Illana Gozes; Günter Höglinger; James P Quinn; Nigel M Hooper; Kina Höglund
Journal:  J Mol Neurosci       Date:  2017-10       Impact factor: 3.444

4.  Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation.

Authors:  Joseph Levine; David Cohen; Carole Herman; Alain Verloes; Vincent Guinchat; Lautaro Diaz; Cora Cravero; Anne Mandel; Illana Gozes
Journal:  J Mol Neurosci       Date:  2019-07       Impact factor: 3.444

5.  Sexual divergence in microtubule function: the novel intranasal microtubule targeting SKIP normalizes axonal transport and enhances memory.

Authors:  N Amram; G Hacohen-Kleiman; S Sragovich; A Malishkevich; J Katz; O Touloumi; R Lagoudaki; N C Grigoriadis; E Giladi; A Yeheskel; M Pasmanik-Chor; Y Jouroukhin; I Gozes
Journal:  Mol Psychiatry       Date:  2016-01-19       Impact factor: 15.992

6.  ADNP/NAP dramatically increase microtubule end-binding protein-Tau interaction: a novel avenue for protection against tauopathy.

Authors:  Y Ivashko-Pachima; C Laura Sayas; A Malishkevich; I Gozes
Journal:  Mol Psychiatry       Date:  2017-01-24       Impact factor: 15.992

7.  ADNP differentially interact with genes/proteins in correlation with aging: a novel marker for muscle aging.

Authors:  Oxana Kapitansky; Illana Gozes
Journal:  Geroscience       Date:  2019-07-01       Impact factor: 7.713

8.  D-SAL and NAP: Two Peptides Sharing a SIP Domain.

Authors:  Illana Gozes; Shlomo Sragovich; Yulie Schirer; Anat Idan-Feldman
Journal:  J Mol Neurosci       Date:  2016-06       Impact factor: 3.444

Review 9.  Specific protein biomarker patterns for Alzheimer's disease: improved diagnostics in progress.

Authors:  Illana Gozes
Journal:  EPMA J       Date:  2017-09-04       Impact factor: 6.543

10.  Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome.

Authors:  Gal Hacohen-Kleiman; Shlomo Sragovich; Gidon Karmon; Andy Y L Gao; Iris Grigg; Metsada Pasmanik-Chor; Albert Le; Vlasta Korenková; R Anne McKinney; Illana Gozes
Journal:  J Clin Invest       Date:  2018-09-24       Impact factor: 14.808
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