A5021134604- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Microtubule and mitosis dynamics
- Connective tissue disorders research
- Nuclear Structure and Function
- Hedgehog Signaling Pathway Studies
- Protist diversity and phylogeny
- Genetic Syndromes and Imprinting
- Developmental Biology and Gene Regulation
- Pediatric Urology and Nephrology Studies
- Genetics and Neurodevelopmental Disorders
- Bacteriophages and microbial interactions
- Language Development and Disorders
- Genomics and Rare Diseases
- Intimate Partner and Family Violence
- Cancer-related Molecular Pathways
- Fetal and Pediatric Neurological Disorders
- Legume Nitrogen Fixing Symbiosis
- Renal cell carcinoma treatment
- Epigenetics and DNA Methylation
- Reading and Literacy Development
- Neonatal Health and Biochemistry
- Chromosomal and Genetic Variations
- Axon Guidance and Neuronal Signaling
- Biomedical Research and Pathophysiology
University of Sussex
2020-2021
Twin Cities Orthopedics
2021
University of Minnesota
2021
Délégation Paris 7
2017-2020
Université Paris Cité
2017-2020
Inserm
2017-2020
Institut des Maladies Génétiques Imagine
2017-2020
Délégation Paris 5
2017-2018
Sorbonne Paris Cité
2017-2018
University of California, San Diego
2018
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six 1000 live births, represent about 20% prenatally detected anomalies, constitute main cause CKD children. These disorders are phenotypically genetically heterogeneous. Monogenic causes CAKUT humans mice have been identified. However, despite high-throughput sequencing studies, disease remains unknown most patients, several studies support more complex inheritance role environmental factors and/or epigenetics...
A child presenting with Mainzer-Saldino syndrome (MZSDS), characterized by renal, retinal and skeletal involvements, was also diagnosed lung infections airway ciliary dyskinesia. These manifestations suggested dysfunction of both primary motile cilia, respectively. Targeted exome sequencing identified biallelic mutations in WDR19, encoding an IFT-A subunit previously associated MZSDS-related chondrodysplasia, Jeune asphyxiating thoracic dysplasia cranioectodermal dysplasia, linked to cilia...
Mutations in KIF14 have previously been associated with either severe, isolated or syndromic microcephaly renal hypodysplasia (RHD). Syndromic microcephaly-RHD was strongly reminiscent of clinical ciliopathies, relating to defects the primary cilium, a signalling organelle present on surface many quiescent cells. encodes mitotic kinesin, which plays key role at midbody during cytokinesis and has not shown be involved cilia-related functions. Here, we analysed four families fetuses presenting...
Genetic findings reported by our group and others showed that de novo missense variants in the KIF2A gene underlie malformations of brain development called pachygyria microcephaly. Though is known as member Kinesin-13 family involved regulation microtubule end dynamics through its ATP dependent MT-depolymerase activity, how lead to still largely unknown. Using cellular utero electroporation approaches, we show here disease-causing disrupts projection neuron positioning interneuron...
Microlissencephaly is a rare brain malformation characterized by congenital microcephaly and lissencephaly. suspected to result from abnormalities in the proliferation or survival of neural progenitors. Despite recent identification six genes involved microlissencephaly, pathophysiological basis this condition remains poorly understood. We performed trio-based whole exome sequencing seven subjects five non-consanguineous families who presented with either microlissencephaly. This led...
Primary cilia play critical roles in development and disease. Their assembly disassembly are tightly coupled to cell cycle progression. Here, we present data identifying KIF14 as a regulator of formation Hedgehog (HH) signaling. We show that RNAi depletion specifically leads defects ciliogenesis basal body (BB) biogenesis, its absence hampers the efficiency primary cilium dynamics elongation, disrupts localization distal appendage proteins SCLT1 FBF1 components IFT-B complex. identify...
Summary Sporulation in Bacillus subtilis is a paradigm of bacterial development, which involves the interaction between larger mother cell and smaller forespore. The forespore activate different genetic programs, leading to production sporulation‐specific proteins. A critical gap our understanding sporulation how vegetative proteins, made before initiation, contribute spore formation. Here we present system, s patio t emporally r egulated p roteolysis (STRP), enables rapid, developmentally...
ABSTRACT Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, ranging in severity from lethal to mild phenotypes. This study aimed underpin the genetic cause skeletal dysplasia three unrelated families with variable manifestations. The six affected individuals had severe short stature extreme shortening forelimbs, long-bones, metatarsals, brachydactyly (family 1); stature, platyspondyly, metaphyseal irregularities 2);...
Children with developmental language disorder (DLD) have impairments in their language-learning abilities that may influence interactions environmental opportunities to learn two languages. This study explores relationships between proficiency L1 and L2 a set of personal variables within group school-age Spanish-English bilingual children DLD typically-developing peers. Within each group, current usage the home, length exposure, gender, maternal education, analytical reasoning, number...
A precise sequence of axon guidance events is required for the development ocular motor system. Three cranial nerves grow toward, and connect with, six extraocular muscles in a stereotyped pattern, to control eye movements. The signaling protein alpha2-chimaerin (α2-CHN) plays pivotal role formation system; mutations <i>CHN1</i>, encoding α2-CHN, cause human movement disorder Duane Retraction Syndrome (DRS). Our research has demonstrated that manipulation α2-chn zebrafish embryo leads wiring...