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Oct‐3/4 regulates stem cell identity and cell fate decisions by modulating Wnt/β‐catenin signalling
TLDR
Genetic and biochemical studies are presented that suggest an unexpected novel strategy for Oct‐3/4‐dependent regulation of embryogenesis and cell lineage determination that specifically interacts with nuclear β‐catenin and facilitates its proteasomal degradation, resulting in the maintenance of an undifferentiated, early embryonic phenotype. Expand
Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.
TLDR
The roles of CCDC11 and the implications of the identified mutation on left-right axial patterning in patient-derived cells and in the frog embryo as a model organism are characterized. Expand
Xenopus Pkdcc1 and Pkdcc2 Are Two New Tyrosine Kinases Involved in the Regulation of JNK Dependent Wnt/PCP Signaling Pathway
TLDR
The data show, for the first time, that members of the PKDCC family are involved in the regulation of JNK dependent Wnt/PCP signaling pathway. Expand
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
TLDR
The molecular basis of hypomyelinating leukodystrophy in two sibs from a consanguineous family was studied and a homozygous mutation was identified in the ATRN gene, with the consequent insertion of an intronic sequence into the patients’ cDNA and a predicted premature termination of the AT RN polypeptide. Expand
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy
TLDR
It is concluded that complete loss-of-function of AGTPBP1 in humans, just like in mice and sheep, is associated with cerebellar and motor neuron disease, reminiscent of Pontocerebellar Hypoplasia Type 1 (PCH1). Expand
Negative autoregulation of Oct3/4 through Cdx1 promotes the onset of gastrulation
TLDR
Regulatory interactions suggest that Oct3/4 initiates its own negative autoregulation through Cdx1 up‐regulation to begin the repression of pluripotency in preparation for the onset of gastrulation and germ layer differentiation. Expand
Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
TLDR
This study establishes LRRC32 as a candidate disease-associated gene in humans and lends further support to the role of the TGFβ pathway in palatogenesis and retinal development. Expand
Asymmetric robustness in the feedback control of the retinoic acid network response to environmental disturbances
TLDR
It is found that feedback autoregulation was sensitive to the direction of the RA perturbation: RA knock-down exhibited an upper response limit, whereas RA addition did not activate a feedback response below a threshold. Expand
Retinoic acid fluctuation activates an uneven, direction-dependent network-wide robustness response in early embryogenesis
TLDR
Surprisingly, the robustness response analysis suggests that the RA metabolic network regulation exhibits a multi-objective optimization, known as Pareto optimization, characterized by trade-offs between competing functionalities. Expand
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