4.7 Article

Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

Related references

Note: Only part of the references are listed.
Article Neurosciences

The Rac-GEF Tiam1 Promotes Dendrite and Synapse Stabilization of Dentate Granule Cells and Restricts Hippocampal-Dependent Memory Functions

Jinxuan Cheng et al.

Summary: Tiam1 is identified as a crucial regulator of DG development and memory processes, with its loss leading to instability in the dendrites and synapses of DG granule cells, affecting learning and memory abilities.

JOURNAL OF NEUROSCIENCE (2021)

Article Clinical Neurology

Drosophila parabss Flies as a Screening Model for Traditional Medicine: Anticonvulsant Effects of Annona senegalensis

Samuel S. Dare et al.

Summary: Epilepsy is a common neurological disorder affecting millions worldwide, with a significant portion of patients having treatment-resistant seizures. Traditional medicine may offer a cost-effective alternative to Anti-Epileptic Drugs, but lack of testing has hindered its global acceptance.

FRONTIERS IN NEUROLOGY (2021)

Article Genetics & Heredity

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores

Philipp Rentzsch et al.

Summary: The study compared several machine learning methods that score variant effects on splicing using an experimental dataset, integrating the best methods into general variant effect prediction models and evaluating the impact on the classification of known pathogenic variants. The inclusion of splicing DNN effect scores substantially improved predictions across multiple variant categories in the new CADD-Splice model, without compromising overall performance.

GENOME MEDICINE (2021)

Article Genetics & Heredity

Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles

Tomoko Uehara et al.

Summary: The K125E variant in the NFIA gene leads to neurodevelopmental disorder, as confirmed by experiments using fruit fly and zebrafish models.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

Article Genetics & Heredity

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Dustin Baldridge et al.

Summary: With the decrease in sequencing costs, there has been a rapid increase in genetic and genomic data, raising the challenge of determining which variants cause phenotypes and diseases. Platforms using model organisms have enabled the discovery of new gene-disease relationships and the identification of variant pathogenicity, leading to suggestions for new therapies.

ORPHANET JOURNAL OF RARE DISEASES (2021)

Article Genetics & Heredity

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Lindsey D. Goodman et al.

Summary: The Drosophila gene dTnpo, orthologous to TNPO2, is essential for neuronal maintenance and function, with downregulation in mature neurons disrupting activity and survival. Mutant alleles or downregulation of dTnpo causes developmental defects, while upregulation results in similar phenotypes as loss of Transportin activity. Proband-associated variants in TNPO2 disrupt protein function, correlating to their location within the protein. Overall, TNPO2 variants are causative for neurodevelopmental abnormalities.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

Article Genetics & Heredity

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft et al.

Summary: Variants in GDF11 can lead to abnormalities in the development of multiple organ systems, with partial variants affecting human neuronal development.

GENETICS IN MEDICINE (2021)

Article Biochemistry & Molecular Biology

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Debdeep Dutta et al.

HUMAN MOLECULAR GENETICS (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Cell Biology

ArhGEF37 assists dynamin 2 during clathrin-mediated endocytosis

Abhiyan Viplav et al.

JOURNAL OF CELL SCIENCE (2019)

Article Biochemistry & Molecular Biology

The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases

Hugo J. Bellen et al.

HUMAN MOLECULAR GENETICS (2019)

Article Genetics & Heredity

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

Muhammad Ansar et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Biochemistry & Molecular Biology

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

A Single-Cell Transcriptome Atlas of the Aging Drosophila Brain

Kristofer Davie et al.

Article Biochemistry & Molecular Biology

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Ning Liu et al.

HUMAN MOLECULAR GENETICS (2018)

Article Biology

A gene-specific T2A-GAL4 library for Drosophila

Pei-Tseng Lee et al.

ELIFE (2018)

Article Genetics & Heredity

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Muhammad Ansar et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Medicine, General & Internal

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

K. Splinter et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Article Genetics & Heredity

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Michael F. Wangler et al.

GENETICS (2017)

Article Biochemistry & Molecular Biology

A Ca2+ channel differentially regulates Clathrin-mediated and activity-dependent bulk endocytosis

Chi-Kuang Yao et al.

PLOS BIOLOGY (2017)

Article Genetics & Heredity

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Michael F. Wangler et al.

GENETICS (2017)

Article Genetics & Heredity

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer et al.

GENETICS IN MEDICINE (2016)

Review Biochemistry & Molecular Biology

Actin Out: Regulation of the Synaptic Cytoskeleton

Erin F. Spence et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2015)

Article Multidisciplinary Sciences

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Kristin G. Ardlie et al.

SCIENCE (2015)

Article Multidisciplinary Sciences

The role of TORC1 in muscle development in Drosophila

Isabelle Hatfield et al.

SCIENTIFIC REPORTS (2015)

Article Biology

A genetic toolkit for tagging intronic MiMIC containing genes

Sonal Nagarkar-Jaiswal et al.

ELIFE (2015)

Article Biochemistry & Molecular Biology

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Joanna S. Amberger et al.

NUCLEIC ACIDS RESEARCH (2015)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Article Developmental Biology

A versatile platform for creating a comprehensive UAS-ORFeome library in Drosophila

Johannes Bischof et al.

DEVELOPMENT (2013)

Article Biochemical Research Methods

An integrative approach to ortholog prediction for disease-focused and other functional studies

Yanhui Hu et al.

BMC BIOINFORMATICS (2011)

Article Biochemical Research Methods

MiMIC: a highly versatile transposon insertion resource for engineering Drosophila melanogaster genes

Koen J. T. Venken et al.

NATURE METHODS (2011)

Article Multidisciplinary Sciences

Tiam1 as a Signaling Mediator of Nerve Growth Factor-Dependent Neurite Outgrowth

Shahrzad Shirazi Fard et al.

PLOS ONE (2010)

Article Multidisciplinary Sciences

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

Alex Coventry et al.

NATURE COMMUNICATIONS (2010)

Review Biochemistry & Molecular Biology

GEFs and GAPs: Critical elements in the control of small G proteins

Johannes L. Bos et al.

Article Multidisciplinary Sciences

The Rac1 guanine nucleotide exchange factor Tiam1 mediates EphB receptor-dependent dendritic spine development

Kimberley F. Tolias et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Cell Biology

Cdc42 GEF Tuba regulates the junctional configuration of simple epithelial cells

Tetsuhisa Otani et al.

JOURNAL OF CELL BIOLOGY (2006)

Article Multidisciplinary Sciences

TrkB binds and tyrosine-phosphorylates Tiam1, leading to activation of Rac1 and induction of changes in cellular morphology

Yuki Miyamoto et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Developmental Biology

GAL4 system in Drosophila:: A fly geneticist's Swiss army knife

JB Duffy

GENESIS (2002)

Article Cell Biology

Tiam1 mediates Ras activation of Rac by a PI(3)K-independent mechanism

JM Lambert et al.

NATURE CELL BIOLOGY (2002)