Kit Doudney

Wnt/β-catenin signalling: function, biological mechanisms, and therapeutic opportunities

Coordinated but physically separable interaction with H3K27-demethylase and H3K4-methyltransferase activities are required for T-box protein-mediated activation of developmental gene expression

Planar Cell Polarity Signaling in the Drosophila Eye

The T-box family.

Munc13 C2B domain is an activity-dependent Ca2+ regulator of synaptic exocytosis

Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes

ECLAMC: The Latin-American Collaborative Study of Congenital Malformations

Biological functions of fucose in mammals

Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse

Differential analysis of gene regulation at transcript resolution with RNA-seq

Dishevelled: The hub of Wnt signaling

Current perspectives on the genetic causes of neural tube defects

Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation

Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous

Mammalian phosphoinositide kinases and phosphatases

Wnt signaling in cancer

Newly Synthesized Phosphatidylinositol Phosphates Are Required for Synaptic Norepinephrine but Not Glutamate or γ-Aminobutyric Acid (GABA) Release

Mapping Genes through the Use of Linkage Disequilibrium Generated by Genetic Drift: ‘Drift Mapping’ in Small Populations with No Demographic Expansion

Histone methylation: a dynamic mark in health, disease and inheritance

Jmjd3 and UTX Play a Demethylase-Independent Role in Chromatin Remodeling to Regulate T-Box Family Member-Dependent Gene Expression

Spire and Cordon-bleu: multifunctional regulators of actin dynamics

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

BTK Regulates PtdIns-4,5-P2 Synthesis

The complex pathology of trinucleotide repeats

Understanding plant responses to drought — from genes to the whole plant

Phosphoinositides as spatial regulators of membrane traffic

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

A Novel Phosphatidylinositol-5-phosphate 4-Kinase (Phosphatidylinositol-phosphate Kinase IIγ) Is Phosphorylated in the Endoplasmic Reticulum in Response to Mitogenic Signals

Phosphatidylinositol 4-Phosphate 5-Kinase Type I Is Regulated through Phosphorylation Response by Extracellular Stimuli

WNT signaling in bone homeostasis and disease: from human mutations to treatments

Cleft lip and palate: understanding genetic and environmental influences

PIPkins1We introduce here the abbreviation PIPkin (an abbreviation we have used in our lab for years) for cogent reasons. Previously, PtdIns4P 5-kinase was the favoured abbreviation, but in view of the extensive revision and uncertainty as to substrates and products that we discuss in this review, only PtdInsP kinase would now suffice. Moreover, we have recently recorded evidence that type II PIPkin is subject to multiple phosphorylations by protein kinases [1]. As we progress in our characterisation of these kinases, we feel that ‘PtdInsP kinase kinases’ is a very confusing term for them, and using PIPkins for PtdInsP kinases (and thus PIPkin kinases for the protein kinases that phosphorylate them) is much to be preferred for general use. A fuller abbreviation, where the reaction catalysed is known, e.g. type I PtdIns4P 5-kinase, is of course a suitable alternative in many instances.1, their substrates and their products: new functions for old enzymes

Cleft lip and palate

Mitochondrial control of cell death

Abscisic Acid Signaling in Seeds and Seedlings

Type I Phosphatidylinositol-4-phosphate 5-Kinases Are Distinct Members of This Novel Lipid Kinase Family

Circletail, a New Mouse Mutant with Severe Neural Tube Defects: Chromosomal Localization and Interaction with the Loop-Tail Mutation

Demographic history and linkage disequilibrium in human populations

A New Mouse Liver-specific Gene, Encoding a Protein Homologous to Human Antimicrobial Peptide Hepcidin, Is Overexpressed during Iron Overload

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis

A Novel Family of Phosphatidylinositol 4-Kinases Conserved from Yeast to Humans

Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail

Zebrafish as a Model Vertebrate for Investigating Chemical Toxicity

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

Cell Signaling during Cold, Drought, and Salt Stress

The PI3K Pathway in Human Disease

22q11.2 deletion syndrome

Identification of stem cells in small intestine and colon by marker gene Lgr5

Massive Actin Polymerization Induced by Phosphatidylinositol-4-phosphate 5-Kinase in Vivo

Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities

Cloning of cDNAs Encoding Two Isoforms of 68-kDa Type I Phosphatidylinositol4-phosphate 5-Kinase

Integrated signalling pathways for mast-cell activation

Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure

Small RNAs are modified with N-glycans and displayed on the surface of living cells

Friedreich Ataxia: Molecular Mechanisms, Redox Considerations, and Therapeutic Opportunities

A novel GTP-binding protein–adaptor protein complex responsible for export of Vangl2 from the trans Golgi network

Biochemical Modulation of Cisplatin Mechanisms of Action:  Enhancement of Antitumor Activity and Circumvention of Drug Resistance

A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine

Theheartstringsmutation in zebrafish causes heart/fin Tbx5 deficiency syndrome

Synthesis and Function of 3-Phosphorylated Inositol Lipids

Likelihood methods for locating disease genes in nonequilibrium populations.

Neonatal Lethality of LGR5 Null Mice Is Associated with Ankyloglossia and Gastrointestinal Distension

PLANTCELLULAR ANDMOLECULARRESPONSES TOHIGHSALINITY

Rho GTPases and their effector proteins

Drought and Salt Tolerance in Plants

Classification of Intrinsically Disordered Regions and Proteins

Neural Science

Oxidative stress, mitochondrial damage and neurodegenerative diseases.

Frizzled 2 and frizzled 7 function redundantly in convergent extension and closure of the ventricular septum and palate: evidence for a network of interacting genes

Protection from Oxidative Stress–Induced Apoptosis in Cortical Neuronal Cultures by Iron Chelators Is Associated with Enhanced DNA Binding of Hypoxia-Inducible Factor-1 and ATF-1/CREB and Increased Expression of Glycolytic Enzymes, p21^waf1/cip1, and Erythropoietin

Satellite Cells and the Muscle Stem Cell Niche

SALT AND DROUGHT STRESS SIGNAL TRANSDUCTION IN PLANTS

Identification of Genes That Mediate Sensitivity to Cisplatin

Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain

Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

Differentiation of Effector CD4 T Cell Populations

Wnt-Frizzled/Planar Cell Polarity Signaling: Cellular Orientation by Facing the Wind (Wnt)

Friedreich's ataxia: a defect in signal transduction?

TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression

Epithelial cell polarity genes are required for neural tube closure

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia

A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings

Comparative Physical and Transcript Maps of ∼1 Mb around loop-tail, a Gene for Severe Neural Tube Defects on Distal Mouse Chromosome 1 and Human Chromosome 1q22–q23

Mutations in the planar cell polarity genesCELSR1andSCRIBare associated with the severe neural tube defect craniorachischisis

The Friedreich's ataxia gene encodes a novel phosphatidylinositol–4–phosphate 5–kinase

Analysis of the planar cell polarity gene Vangl2 and its co‐expressed paralog Vangl1 in neural tube defect patients (Am J Med Genet 136A: 90–92, 2005)

Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.