• resulting in 3 genotypes: DD and II homozygous and ID heterozygous. (molvis.org)
  • Random mating in the general population tends to limit the occurrence of homozygous and compound heterozygous forms of dominant hereditary disorders. (nih.gov)
  • Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. (nature.com)
  • The disorder is recessive , which means that a horse must be homozygous positive or have two copies of the defective gene to suffer from the disease. (blueroans4u.com)
  • The HYPP gene is dominant so both homozygous positive ( HH ) and heterozygous ( nH ) will cause this muscular disorder. (blueroans4u.com)
  • Mice homozygous for the Thrb tm1Syc allele were mated to EIIa-Cre transgenic mice to generate mice that carry a germline deletion of the neomycin resistance gene. (jax.org)
  • Northern analyses of liver, heart, and brain indicate that levels of transcription of both the mutated and wild-type alleles were not significantly different in heterozygous and homozygous mutant mice, and wild-type mice. (jax.org)
  • Application to a cohort of 41,755 exome samples yields 20,432 rare homozygous deletions and 2,529,791 rare SNVs/Indels, of which we show that 338,084 are due to gene conversion events. (bvsalud.org)
  • There are two beta globin genes, and patients may have heterozygous, homozygous, or compound heterozygous mutations. (msdmanuals.com)
  • In addition, patients may be heterozygous or homozygous for abnormalities in 2 different globin genes (eg, beta and delta). (msdmanuals.com)
  • These mutations may be heterozygous or homozygous. (msdmanuals.com)
  • However, the genotype-to-phenotype correlation is variable on the gene level and more accurate when described by a specific mutation. (medscape.com)
  • The association between mutation of the ATM gene and a high incidence of lymphoid malignancy in patients with AT, together with the development of lymphoma in Atm deficient mice, supports the proposal that inactivation of the ATM gene may be of importance in the pathogenesis of sporadic lymphoid malignancy. (bmj.com)
  • Results Heterozygous mutation HNF 1B was identified (c. 1-¿_1674+del), consisting of the deletion in one of its complete gene alleles. (bmj.com)
  • Conclusions The demonstration of de novo gene mutation in this patient confirms the aetiology of cystic disease. (bmj.com)
  • The α4.2kb deletion consists of an only one functional α-globin gene (HBA1) in which Hb Q-Thailand mutation occurs. (ithanet.eu)
  • Furthermore, this finding underscores that caution should be taken when attributing a single gene disease-causing mutation (or inheritance pattern) to a family as a whole. (molvis.org)
  • Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone. (jax.org)
  • A particular signature mutation has been found to be driven by a sub-family of the human APOBEC (apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like) gene. (biomedcentral.com)
  • This test recognized a heterozygous deletion of chromosome 17p12 comprising the gene the HNPP mutation. (biotech2012.org)
  • Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. (omeka.net)
  • The aim of the study was to screen the mutation of TBX1 and CRKL in isolated CTDs Chinese patients without 22q11.2 deletion and identify the pathomechanism of the missense mutations. (biomedcentral.com)
  • No mutation of CRKL gene was found. (biomedcentral.com)
  • This is the first human missense mutation showing that TBX1 is a candidate causing isolated CTDs in Chinese patients without 22q11.2 deletion. (biomedcentral.com)
  • This patient series confirms the high frequency of MeCP2 gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns). (neurology.org)
  • It is linked to the TBCE gene on chromosome 1q42-43 which encodes for the tubulin-specific chaperone E protein [2-4]. (who.int)
  • FTO is a gene of unknown function in an unknown pathway that was originally cloned as a result of the identification of a fused-toe (Ft) mutant mouse that results from a 1.6-Mb deletion of mouse chromosome 8. (gnxp.com)
  • The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. (cdc.gov)
  • Retinal gene-targeted NGS in the fourth affected family member revealed compound heterozygous mutations in USH2A (p. (molvis.org)
  • Dandy-Walker malformation can also be a feature of genetic syndromes that are caused by mutations in specific genes. (medlineplus.gov)
  • As a result of our study, angiotensin converting enzyme gene I/D polymorphism DD genotype could be a genetic marker in ankylosing spondylitis in a Turkish study population. (molvis.org)
  • Biallelic genetic alterations for two Waardenburg genes, PAX3 and MITF have been previously recognized. (nih.gov)
  • Genetic testing for mutational analysis of EVC and EVC2 is available clinically by sequence analysis of the entire coding region, deletion/duplication analysis, and linkage analysis. (medscape.com)
  • The AT locus was mapped to the chromosomal region 11q22-23 using genetic linkage analysis in the late 1980s and the causative gene was identified by positional cloning several years later. (bmj.com)
  • Aside from the strong genetic risk conferred by multiple variants of the prion protein gene (PRNP), several other risk variants have been suggested. (bmj.com)
  • We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. (who.int)
  • In tumor cells, one can always detect alterations in the genetic material itself that include deletions, amplifications, or mutations, some of which appear to have a direct effect on growth-controlling functions and other properties characteristic of cancer ( 1 ). (aacrjournals.org)
  • Initial genetic analysis was performed on one family member with traditional Sanger single gene sequencing and/or panel-based testing, and ultimately, retinal gene-targeted NGS was required to identify the underlying cause of disease for individuals within the three families. (molvis.org)
  • These findings reveal new insights into understanding the genetic, biological and immunological mechanisms through which APOBEC genes may be involved in carcinogenesis, and provide potential genetic biomarker for the development of disease prevention and cancer immunotherapy. (biomedcentral.com)
  • Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
  • Caused by a heterozygous multi-gene deletion, 22q11.2 deletion syndrome (22q11DS) is a relatively common genetic disorder (1:4000 live births). (biomedcentral.com)
  • Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
  • Filtering for variants that are absent in an unrelated control and overlap a disease gene coding exon identified three deletions and three insertions. (nih.gov)
  • One of these, a heterozygous 2,184 bp deletion, overlaps the first coding exon of PRKAR1A, which is implicated in autosomal dominant Carney complex. (nih.gov)
  • A common germline deletion covering the last intronic of APOBEC3A to the last exon of APOBEC3B (called APOBEC3A/B) is found to increase APOBEC-mutational signature in breast cancer, as a similar pattern driven by the elevated APOBEC3A or APOBEC3B expressions [ 3 ]. (biomedcentral.com)
  • The more common form of partial deficency in IFNγ1-receptor is due to heterozygous frameshift deletions at exon 6 of the gene, which result in abnormal receptors that accumulates at high levels at the cell surface, exerting a dominativ negative effect. (lu.se)
  • Occasionally, these result in phenotypic overlap between genes as well as genes causing congenital myopathy to occasionally have phenotypes more consistent with congenital muscular dystrophies, limb-girdle muscular dystrophies, or even possible neuropathic or neuromuscular junction diseases. (medscape.com)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Mutations affecting the gene encoding this factor are related to different phenotypes of renal disease among glomerulocystic kidney disease (GCKD) is included. (bmj.com)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • Phenotype can vary greatly even in a single gene or pathologic classification. (medscape.com)
  • We have developed a novel algorithm (PVP) which augments existing strategies by using the similarity of the patients phenotype to known phenotype-genotype data in human and model organism databases to further rank potential candidate genes. (plos.org)
  • The phenotype HNPP (hereditary neuropathy with responsibility to pressure palsies) is caused by heterozygous deletion of the gene. (biotech2012.org)
  • One of the most important points about genome-wide association studies is that they're (more or less) unbiased-- that is, you don't have to think about which genes could be involved in the phenotype before studying it. (gnxp.com)
  • We also report on a subject with a de novo deletion covering a large fraction of the CHD1 gene without any obvious neurological phenotype. (duke.edu)
  • It is predicted that MCPH gene mutations may lead to the disease phenotype due to a disturbed mitotic spindle orientation, premature chromosomal condensation, signalling response as a result of damaged DNA, microtubule dynamics, transcriptional control or a few other hidden centrosomal mechanisms that can regulate the number of neurons produced by neuronal precursor cells. (biomedcentral.com)
  • TBX1 and CRKL haploinsufficiency is thought to cause the cardiac phenotype of the 22q11.2 deletion syndrome. (biomedcentral.com)
  • The TBX1 gene, a member of a phylogenetically conserved T-box gene family of DNA-binding transcription factors, is mapped to the 22q11.2, and is hypothesised to be responsible for the cardiac phenotype of 22q11.2 deletion syndrome. (biomedcentral.com)
  • Individuals heterozygous for Hb Q-Thailand are usually clinically asymptomatic and have normal or slight RBC microcytosis because of the linked -α4.2 α+-thal allele. (ithanet.eu)
  • Beta-thalassemia results from decreased production of beta-polypeptide chains due to either mutations or deletions in the beta globin gene, leading to impaired production of hemoglobin (Hb) A. Mutations or deletions may result in partial loss (beta + allele) or complete loss (beta 0 allele) of beta globin function. (msdmanuals.com)
  • We generated mice that possess a heterozygous deletion of the PTG gene. (jci.org)
  • Although young PTG heterozygous mice initially demonstrate normal glucose tolerance, progressive glucose intolerance, hyperinsulinemia, and insulin resistance develop with aging. (jci.org)
  • Insulin resistance in older PTG heterozygous mice correlates with a significant increase in muscle triglyceride content, with a corresponding attenuation of insulin receptor signaling. (jci.org)
  • ANGPT2 has previously been shown to influence lymphatic development in mice, but this is the first time when mutations in this gene were found to cause lymphedema in humans," noted Alitalo. (genengnews.com)
  • We assessed the effect of Chop deletion in multiple mouse models of type 2 diabetes and found that Chop -/- mice had improved glycemic control and expanded β cell mass in all conditions analyzed. (jci.org)
  • In addition, we found that isolated islets from Chop -/- mice displayed increased expression of UPR and oxidative stress response genes and reduced levels of oxidative damage. (jci.org)
  • Heterozygous mice have sharply demarcated white spotting on the belly, tail and digits and frequently a variable sized white spot on the back. (jax.org)
  • We find that the development of amygdala kindling is markedly retarded in mice heterozygous for a deletion of the neurotrophin-3 (NT-3) gene (NT-3+/- mice). (lu.se)
  • Transgene expression using viral vectors provides an alternative, which allows for temporal expression of genes in mice with reduced cost and effort. (nature.com)
  • Three genes of unknown function (Fts, Ftm and Fto), along with three members of the Iroquois gene family (Irx3, Irx5, and Irx6 from the IrxB gene cluster), are deleted in Ft mice. (gnxp.com)
  • People normally have four alpha genes (two on each of a pair of chromosomes) because the alpha gene is duplicated. (msdmanuals.com)
  • one heterozygous de novo ANGPT2 whole-gene deletion and four heterozygous ANGPT2 missense mutations. (genengnews.com)
  • The deletion was classified as pathogenic based on guidelines for interpretation of sequence variants.ConclusionThis first successful application of genome LRS to identify a pathogenic variant in a patient suggests that LRS has significant potential for the identification of disease-causing structural variation. (nih.gov)
  • Using this technique, we deleted the lipase locus in the C. parapsilosis genome consisting of adjacent genes CpLIP1 and CpLIP2. (elsevierpure.com)
  • I'm in the latter group, as a strong signal in a genome-wide association can in some cases lead to new candidate genes, new hypotheses and expose interesting biology. (gnxp.com)
  • Here, we present a method (Chameleolyser) that accurately identifies single nucleotide variants and small insertions/deletions (SNVs/Indels), copy number variants and ectopic gene conversion events in duplicated genomic regions using whole-exome sequencing data. (bvsalud.org)
  • Gene testing for mutational analysis of EVC and EVC2 is available clinically by sequence analysis of the entire coding region, deletion/duplication analysis, and linkage analysis (for up-to-date information on gene testing, see Gene Tests ). (medscape.com)
  • Although APOBEC-mutational signature is found in tumor tissues of multiple cancers, how a common germline APOBEC3A/B deletion affects the mutational signature remains unclear. (biomedcentral.com)
  • Using data from 10 cancer types generated as part of TCGA, we performed integrative genomic and association analyses to assess inter-relationship of expressions for isoforms APOBEC3A and APOBEC3B , APOBEC-mutational signature, germline APOBEC3A/B deletions, neoantigen loads, and tumor infiltration lymphocytes (TILs). (biomedcentral.com)
  • We found that expression level of the isoform uc011aoc transcribed from the APOBEC3A/B chimera was associated with a greater burden of APOBEC-mutational signature only in breast cancer, while germline APOBEC3A/B deletion led to an increased expression level of uc011aoc in multiple cancer types. (biomedcentral.com)
  • Furthermore, we found that the deletion was associated with elevated APOBEC-mutational signature, neoantigen loads and relative composition of T cells (CD8+) in TILs only in breast cancer. (biomedcentral.com)
  • Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. (cancerindex.org)
  • Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. (nih.gov)
  • RESULTS: Here we describe six CHD1 heterozygous missense variants in a cohort of patients with autism, speech apraxia, developmental delay and facial dysmorphic features. (duke.edu)
  • There were no statistically significant alterations in the burden of CNV duplications or deletions in any disease group or geographic region after correction for multiple testing. (bmj.com)
  • Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. (nature.com)
  • 16 Among these loci, "son of sevenless homologue 1" ( SOS1 , OMIM 182530) and "RE1 silencing transcription factor" ( REST , OMIM 600571), which are HGF-related pathogenic genes, have been identified as associated with GINGF1 and GINGF5, respectively. (nature.com)
  • The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)
  • These studies represent what we believe to be the first targeted disruption of a gene in C. parapsilosis and show that C. parapsilosis-secreted lipase is involved in disease pathogenesis. (elsevierpure.com)
  • The pathogenesis of CTDs is heterogeneous and involves multiple genes and environmental factors. (biomedcentral.com)
  • Heterozygous mutations in TPM2 have been identified in patients with congenital cap myopathy, a rare disorder defined by cap-like structures in muscle fiber periphery. (wikipedia.org)
  • Additionally confounding is that, more recently, genes known to cause congenital myopathy have now also been described to cause a dystrophic process such as seen in congenital muscular dystrophies. (medscape.com)
  • In cases of known genes with cardiac involvement, cardiac care based on subtype should be followed. (medscape.com)
  • Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. (cancerindex.org)
  • Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. (nih.gov)
  • The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. (cdc.gov)
  • Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
  • Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)
  • The Hb Q-Thailand variant is strongly linked in cis to a leftward single α -globin gene deletion (-α4.2). (ithanet.eu)
  • The gene affected in each disease predicts the presentation of disease features. (medscape.com)
  • however, only two disease-causing genes, SOS1 and REST , inducing HGF have been identified at two loci, GINGF1 and GINGF5, respectively. (nature.com)
  • The development of transgenic mouse models that express genes of interest in specific cell types has transformed our understanding of basic biology and disease. (nature.com)
  • This research often requires the tissue-specific expression of transgenes to better mirror human diseases, to visualize pathways being studied or to modulate the expression of a disease-related gene. (nature.com)
  • In addition, however, many stable epigenetic alterations are also associated with this disease, and these presumably work by changing the way normal intact genes are read in these same cells. (aacrjournals.org)
  • With recent availability of next-generation sequencing (NGS), it is becoming more common to pursue disease-targeted panel testing rather than traditional sequential gene-by-gene dideoxy sequencing. (molvis.org)
  • 1 n.p.) identified three retinal dystrophy genes ( PRPH2 , PRPF8 , and USH2A ) with disease-causing mutations in varying combinations among the affected family members. (molvis.org)
  • Focusing on variation in known disease genes leads to a direct molecular diagnosis in 25 previously undiagnosed patients. (bvsalud.org)
  • Causative mutations in the MeCP2 gene were identified in 63% of patients, representing a total of 30 different mutations. (neurology.org)
  • One hundred sixteen patients with classical and atypical RTT were studied for mutations of the MeCP2 gene by using DHPLC and direct sequencing. (neurology.org)
  • β-Tropomyosin, also known as tropomyosin beta chain is a protein that in humans is encoded by the TPM2 gene. (wikipedia.org)
  • human striated muscles express protein from the TPM1 (α-tropoomyosin), TPM2 (β-tropomyosin) and TPM3 (γ-tropomyosin) genes, with α-tropomyosin being the predominant isoform in striated muscle. (wikipedia.org)
  • What does this gene/protein do? (cancerindex.org)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • The ATM gene encodes a large protein that belongs to a family of kinases possessing a highly conserved C-terminal kinase domain related to the phosphatidylinositol 3-kinase domain. (bmj.com)
  • The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. (nih.gov)
  • A further study has shown that a fusion protein that is generated by germline APOBEC3A/B deletion has a higher expression level than the APOBEC3A protein [ 2 ]. (biomedcentral.com)
  • Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
  • 7 The Rett gene was recently identified as the methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
  • 8 The MeCP2 protein, initially characterized by its ability to bind single methylated CG nucleotides, 9 plays a significant role in the transcriptional silencing of genes. (neurology.org)
  • To our knowledge, angiotensin converting enzyme ( ACE ) gene I/D polymorphisms have not yet been investigated in AS patients in Turkish population.This study was conducted in Turkish patients with AS to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene. (molvis.org)
  • Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL). (bmj.com)
  • Heterozygous deletions of 3' region of the PARK2 gene were found in 3 sCJD patients and no controls (p=0.001, uncorrected). (bmj.com)
  • We enrolled 199 non-22q11.2 deletion patients with CTDs and 139 unrelated healthy controls. (biomedcentral.com)
  • To better address the issue of the link between TBX1 and isolated CTDs, we performed TBX1 gene sequencing in a large sample of Chinese isolated CTDs patients without 22q11.2 deletion. (biomedcentral.com)
  • Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients. (cdc.gov)
  • This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. (cancerindex.org)
  • 4 - 7 The ATM gene encodes a nuclear phosphoprotein of approximately 350 kDa (3056 amino acids) and is ubiquitously expressed. (bmj.com)
  • Herein, we report biallelic deletions in SOX10, a gene associated with Waardenburg syndromes type II and IV. (nih.gov)
  • Array comparative genomic hybridization in patient one and patient two revealed copy-number variant (CNV) deletions, respectively, ~ 1.45 Mb in size involving FOXF1 and an ~ 0.7 Mb in size involving FOXF1 enhancer and leaving FOXF1 intact. (researchgate.net)
  • 3 , 4 The ATM gene is located at 11q22-23, spans 184 kb of genomic DNA, and has 66 exons. (bmj.com)
  • Multiple genes contributing to the retinal dystrophy genotypes within a family were discovered using retinal gene-targeted NGS. (molvis.org)
  • The fused-toe mutant is a poor model for studying the role of altered Fto activity , because multiple genes are deleted. (gnxp.com)
  • Il s'agit de la première série de cas du syndrome de Sanjad-Sakati confirmés génétiquement en Jordanie. (who.int)
  • Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. (medscape.com)
  • Among the Amish, the abnormal gene can be traced to the immigrants Samuel King and his wife, whose identity is not known. (medscape.com)
  • Additionally, each gene may have other tissue expression, which can result in non-muscle symptoms. (medscape.com)
  • 3 primer, TGGT- a 32-bp deletion in the CCR5 gene prevents its expression GAAGATAAGCCTCAC. (cdc.gov)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • The results were validated both by gene expression analysis and immunohistochemistry study in an independent 55 clinical samples from Fudan University Shanghai Cancer Center. (cancerindex.org)
  • Differences in whole-brain metabolism are associated with the expression of genes related to neurovascular unit integrity and synaptic plasticity in temporal lobe epilepsy. (cdc.gov)
  • This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)
  • How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
  • To date, 256 genes listed in RetNet have been associated with syndromic and non-syndromic retinal dystrophies, which can be inherited as an autosomal-recessive, autosomal-dominant, or X-linked trait ( RetNet ). (molvis.org)
  • We have developed an efficient gene deletion system for C. parapsilosis based on the repeated use of the dominant nourseothricin resistance marker (caSAT1) and its subsequent deletion by FLP-mediated, site-specific recombination. (elsevierpure.com)
  • KEGG enrichment analysis showed that the target genes of these differentially expressed miRNAs were involved in the signaling pathways including tumor-related signaling pathway, PI3K-Akt signaling pathway, Ras signaling pathway, Rap1 signaling pathway, cytoskeletal regulatory signaling pathway, purine metabolization-related signaling pathway and P53 signaling pathway. (bvsalud.org)
  • Recent work has contributed to the identification of dozens of ASD risk genes, the identification of the first high confidence TD genes, and has utilized systems biological approaches to characterize the spatial and temporal convergence of autism genes in developing human brain. (ucsf.edu)
  • These results indicate that endogenous NT-3 levels can influence the rate of epileptogenesis, and suggest a link between NT-3 and BDNF gene regulation in dentate granule cells. (lu.se)
  • however, a better understanding may be achieved now that the genes EVC (MIM #604831) and EVC2 (MIM #607261) have been identified. (medscape.com)
  • Consequently both the sire and the dam must possess at least one copy of the mutated gene in order for the offspring to be afflicted. (blueroans4u.com)
  • Additionally we reconstructed the CpLIP2 gene, which restored lipase activity. (elsevierpure.com)