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Search references for SHANK3. Phrases containing SHANK3
See searches and references containing SHANK3!SHANK3
Protein-coding gene in humans
domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 (ProSAP2), is a protein that in humans is encoded by the SHANK3 gene on chromosome
SHANK3
Rare genetic syndrome
PMS as being caused by SHANK3 mutations, a definition that appears to exclude terminal deletions. The requirement to include SHANK3 in the definition is
22q13_deletion_syndrome
Chinese-American neuroscientist
behaviors can be corrected in adult mice by manipulating the expression of the SHANK3 gene. Feng received his PhD from SUNY Buffalo. He conducted his postdoctoral
Guoping_Feng
Autism associated with another medical condition
autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency". Molecular Autism. 4 (1): 16. doi:10.1186/2040-2392-4-18. PMC 3707861
Syndromic_autism
Rare chromosomal disorder
has a similar phenotype to Phelan-McDermid syndrome, as the loss of the SHANK3 gene is implicated in both. Though ring chromosome 22 has a variable phenotype
Ring_chromosome_22
Portuguese neuroscientist
adult mice by restoring the SHANK3 gene, and coauthoring a publication showing that specific human mutations in the SHANK3 gene can lead to distinct neuropsychiatric
Patrícia_Monteiro
Human chromosome
the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSASP2 in the major neurological symptoms". J Med Genet. 40 (8): 575–584
Chromosome_22
Topics referred to by the same term
Tringa Shankh, a quantity in the Indian numbering system SHANK1, SHANK2, and SHANK3, types of protein Bud Shank, an American saxophonist Christopher B. Shank
Shank
Gundelfinger ED, Birchmeier W (December 2004). "The neuronal scaffold protein Shank3 mediates signaling and biological function of the receptor tyrosine kinase
Heritability_of_autism
French scientist
(2007). "Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders". Nat. Genet. 39 (1): 25–7
Thomas_Bourgeron
Protein domain
PPP1R16A; PPP1R16B; PSMD10; RAI14; RFXANK; RIPK4; RNASEL; SHANK1; SHANK2; SHANK3; SNCAIP; TA-NFKBH; TEX14; TNKS; TNKS2; TNNI3K; TP53BP2; TRP7; TRPA1; TRPC3;
Ankyrin_repeat
disorder (ASD). Analysis using SNOTRAP mass spectrometry indicates that SHANK3 mutations disrupt S-nitrosylation in the cortex and striatum, affecting
Haitham_Amal
Chemical compound
Wang ZJ, Hu Z, Matas E, Wei J, Yan Z (April 2018). "Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC)
Romidepsin
Colombian-American neuroscientist and entrepreneur
Froehlich, W.; Bernstein, J.A.; Hallmayer, J.F.; Dolmetsch, R.E. (2013-11-14). "SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome
Ricardo_Dolmetsch
of the filopodia to mature properly into spines. Mutations in the gene SHANK3 have been shown to elicit similar phenotypes to those seen in the brains
Dendritic_filopodia
American neuroscientist
Press, 1992, ISBN 978-0-262-08214-3 "Activity deprivation modulates the Shank3/Homer1/mGluR5 signaling pathway to enable synaptic upscaling", Andrea A
Gina_G._Turrigiano
Protein-coding gene in the species Homo sapiens
chromosome 11, and SHANK3 on chromosome 22. The locus of SHANK1, in particular, is less studied in relation to ASD than SHANK2 and SHANK3. The objective of
SHANK1
Complex interplay of factors
potentiates lasting sex-specific changes in behavior in genetically vulnerable Shank3 heterozygous autism model mice". Molecular Autism. 13 (1): 35. doi:10
Causes_of_autism
Neuron membrane protein
identified via the structural protein ProSAP1 SHANK2 and potentially ProSAP2 SHANK3. The study authors concluded that the study "illustrates the significant
Glutamate_receptor
Medical practice
and proposed incorporating sperm analysis into genetic counseling. The SHANK3 mutation, identified in 2007 by a French research team led by Thomas Bourgeron
Prenatal_screening_for_autism
Use of epigenome-influencing techniques to treat medical conditions
research for DNA methylation in relation to autism are oxytocin receptor, SHANK3, and BCL-2. Oxytocin is a hormone that partially controls social interactions
Epigenetic_therapy
Italian neuroscientist (born 1975)
which to probe social neural circuit function. Using shRNA, they modelled Shank3, a synapse scaffolding protein known to be implicated in ASD phenotypes
Camilla_Bellone
Small protein domain found in some kinases and GTPases
STAC3 Some myosins SH3 and multiple ankyrin repeat domains: SHANK1, SHANK2, SHANK3 YAP1 ARHGAP12 vexin (VXN) TANGO1 Integrase Focal Adhesion Kinase (FAK, PTK2)
SH3_domain
New Zealand professor of physiology
Grabrucker; et al. (1 October 2012). "Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic
Johanna_Montgomery
Chemical compound
crucial for the anchoring of the receptor to the membrane. Human GRIP1, SHANK3 (as well as other members of the SHANK family), and E3 Ubiquitin Ligase
Willardiine
Biological processes that may contribute to autism
function and development of the synapse. Some of those implicated include SHANK3, SCN2A, and PTEN. Neuroanatomical studies and the association between autism
Mechanism_of_autism
Protein domain
SAMD8; SAMD9; SARM1; SCMH1; SCML1; SCML2; SEC23IP; SGMS1; SHANK1; SHANK2; SHANK3; STARD13; UBP1; USH1G; ZCCHC14; p63; p73; Bork P, Ponting CP, Hofmann K
Sterile_alpha_motif
Protein family
RGS12 RGS3 RHPN1 RIL RIMS1 RIMS2 SCN5A SCRIB SDCBP SDCBP2 SHANK1 SHANK2 SHANK3 SHROOM2 SHROOM3 SHROOM4 SIPA1 SIPA1L1 SIPA1L2 SIPA1L3 SLC9A3R1 SLC9A3R2
PDZ_domain
(2007). "Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders". Nature Genetics. 39 (1):
Autism_in_France
American neuroscientist
and to a clinical trial showing preliminary efficacy in patients with a SHANK3 mutation. Buxbaum has published over 250 peer-reviewed articles that have
Joseph_Buxbaum
Protein-coding gene in humans
via DHPH RhoGEF domain. The neuronal synapse adaptors SHANK1, SHANK2, and SHANK3 via PDZ Scribble via PDZ SNX27 via PDZ Rho family of GTPases Scaffold protein
ARHGEF7
Q96HL8 14732 SHANK1 HGNC:15474; Q9Y566 14733 SHANK2 HGNC:14295; Q9UPX8 14734 SHANK3 HGNC:14294; Q9BYB0 14735 SHARPIN HGNC:25321; Q9H0F6 14736 SHB HGNC:10838;
List of human protein-coding genes 7
List_of_human_protein-coding_genes_7
Field of study
synaptic impairments in the prefrontal cortex. Other studies suggest that SHANK3 knockout mice display behavioral phenotypes of autism. These mice display
Epigenetics_of_autism
battery that recharge by 90% in under two minutes. Scientists demonstrate how SHANK3, a brain protein, may trigger autism-like behavior in mice by stopping effective
2011_in_science
Choroideremia; 303100; CHM Chromosome 22q13.3 deletion syndrome; 606232; SHANK3 Chromosome 5q14.3 deletion syndrome; 613443; MEF2C Chrondrodysplasia, acromesomelic
List_of_OMIM_disorder_codes
SHANK3
SHANK3
SHANK3
SHANK3
Girl/Female
Arabic
Battle-ready Warrior
Boy/Male
Hindu
Peak of the Himalaya, Lord Shiva and Gauri (Parvati)
Girl/Female
Arabic, Muslim
Destiny; Fate
Boy/Male
Gujarati, Hindu, Indian, Kannada, Malayalam, Marathi, Telugu
Lord Shiva
Girl/Female
Arabic
Purified; Chaste
Boy/Male
Indian
Warrior, A companion, One on expedition, To conquer
Boy/Male
Native American
Wood. Renowned warrior chief of the Chiricahua Apache.
Boy/Male
British, English
Wise Friend
Girl/Female
Afghan, Arabic, Australian, Farsi, Iranian, Muslim
Breeze
Girl/Female
Tamil
Goddess Parvati
SHANK3
SHANK3
SHANK3
SHANK3
SHANK3