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Showing 1 to 12 of 133 entries
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Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome.

Journal of neurodevelopmental disorders

Wang AT, Lim T, Jamison J, Bush L, Soorya LV, Tavassoli T, Siper PM, Buxbaum JD, Kolevzon A.
PMID: 26909118
J Neurodev Disord. 2016 Feb 23;8:5. doi: 10.1186/s11689-016-9138-9. eCollection 2016.

BACKGROUND: Phelan-McDermid syndrome (PMS), a neurodevelopmental disorder caused by deletion or mutation in the SHANK3 gene, is one of the more common single-locus causes of autism spectrum disorder (ASD). PMS is characterized by global developmental delay, hypotonia, delayed or...

Evidence against roles for phorbol binding protein Munc13-1, ADAM adaptor Eve-1, or vesicle trafficking phosphoproteins Munc18 or NSF as phospho-state-sensitive modulators of phorbol/PKC-activated Alzheimer APP ectodomain shedding.

Molecular neurodegeneration

Ikin AF, Causevic M, Pedrini S, Benson LS, Buxbaum JD, Suzuki T, Lovestone S, Higashiyama S, Mustelin T, Burgoyne RD, Gandy S.
PMID: 18067682
Mol Neurodegener. 2007 Dec 09;2:23. doi: 10.1186/1750-1326-2-23.

BACKGROUND: Shedding of the Alzheimer amyloid precursor protein (APP) ectodomain can be accelerated by phorbol esters, compounds that act via protein kinase C (PKC) or through unconventional phorbol-binding proteins such as Munc13-1. We have previously demonstrated that application of...

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

BMC medical genomics

Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG, Hoffman EJ, Zurawiecki DM, Silverman JM, Hollander E, Soorya L, Anagnostou E, Betancur C, Buxbaum JD.
PMID: 18925931
BMC Med Genomics. 2008 Oct 16;1:50. doi: 10.1186/1755-8794-1-50.

BACKGROUND: It has previously been shown that specific microdeletions and microduplications, many of which also associated with cognitive impairment (CI), can present with autism spectrum disorders (ASDs). Multiplex ligation-dependent probe amplification (MLPA) represents an efficient method to screen for...

Combined spinal-epidural for labor analgesia.

Current opinion in anaesthesiology

Buxbaum JL.
PMID: 17013326
Curr Opin Anaesthesiol. 1999 Jun;12(3):295-8. doi: 10.1097/00001503-199906000-00006.

Since the introduction of the combined spinal-epidural technique in the early 1980s it has gained increasing popularity for analgesia and anesthesia in labor and delivery. The benefit of the rapid onset of analgesia from the intrathecal injection, coupled with...

Genetics in psychiatry: common variant association studies.

Molecular autism

Buxbaum JD, Baron-Cohen S, Devlin B.
PMID: 20678248
Mol Autism. 2010 Mar 25;1(1):6. doi: 10.1186/2040-2392-1-6.

Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common...

On the right (and left) track: Twenty years of progress in studying hemispatial neglect.

Cognitive neuropsychology

Buxbaum LJ.
PMID: 21049327
Cogn Neuropsychol. 2006;23(1):184-201. doi: 10.1080/02643290500202698.

In the last 20 years, several important developments have markedly expanded our understanding of the hemispatial neglect syndrome and, more broadly, of the brain's representation of objects, space, and action. This review follows seven "threads" of scientific development to...

Human induced pluripotent stem cells: a new model for schizophrenia?.

Cell stem cell

Buxbaum JD, Sklar P.
PMID: 21549318
Cell Stem Cell. 2011 May 06;8(5):461-2. doi: 10.1016/j.stem.2011.04.016.

No abstract available.

Homosexuality and love.

Journal of religion and health

Buxbaum RE.
PMID: 24424950
J Relig Health. 1967 Jan;6(1):17-32. doi: 10.1007/BF01533391.

The following points have been made in this paper and are offered as preliminary conclusions: 1) Homosexuality is condemned by the Bible only as it detracts from the purpose of man's creation-to love God and neighbor and self. The...

Associations of adiponectin with individual European ancestry in African Americans: the Jackson Heart Study.

Frontiers in genetics

Bidulescu A, Choudhry S, Musani SK, Buxbaum SG, Liu J, Rotimi CN, Wilson JG, Taylor HA, Gibbons GH.
PMID: 24575123
Front Genet. 2014 Feb 10;5:22. doi: 10.3389/fgene.2014.00022. eCollection 2014.

BACKGROUND: Compared with European Americans, African Americans (AAs) exhibit lower levels of the cardio-metabolically protective adiponectin even after accounting for adiposity measures. Because few studies have examined in AA the association between adiponectin and genetic admixture, a dense panel...

DSM-5: the debate continues.

Molecular autism

Buxbaum JD, Baron-Cohen S.
PMID: 23676181
Mol Autism. 2013 May 15;4(1):11. doi: 10.1186/2040-2392-4-11.

We are fortunate to have invited commentaries from the laboratories of Dr Cathy Lord and Dr Fred Volkmar offering their perspectives on the new Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 criteria for the autism spectrum. Both commentaries...

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay.

Molecular autism

Bozdagi O, Tavassoli T, Buxbaum JD.
PMID: 23621888
Mol Autism. 2013 Apr 27;4(1):9. doi: 10.1186/2040-2392-4-9.

BACKGROUND: Haploinsufficiency of SHANK3, due to either hemizygous gene deletion (termed 22q13 deletion syndrome or Phelan-McDermid syndrome) or to gene mutation, accounts for about 0.5% of the cases of autism spectrum disorder (ASD) and/or developmental delay, and there is...

Epigenetic Biomarkers as Predictors and Correlates of Symptom Improvement Following Psychotherapy in Combat Veterans with PTSD.

Frontiers in psychiatry

Yehuda R, Daskalakis NP, Desarnaud F, Makotkine I, Lehrner AL, Koch E, Flory JD, Buxbaum JD, Meaney MJ, Bierer LM.
PMID: 24098286
Front Psychiatry. 2013 Sep 27;4:118. doi: 10.3389/fpsyt.2013.00118. eCollection 2013.

Epigenetic alterations offer promise as diagnostic or prognostic markers, but it is not known whether these measures associate with, or predict, clinical state. These questions were addressed in a pilot study with combat veterans with PTSD to determine whether...

Showing 1 to 12 of 133 entries