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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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The nose is composed of an observable exterior segment (external nose) and an internal segment within the skull known as the nasal cavity (internal nose). The external nose, visible on the face, consists of a framework of bone and hyaline cartilage enveloped in skin and muscle and lined with a mucous membrane. This structure is supported by the frontal bone, nasal bones, and maxillary bone and is supplemented by a cartilaginous framework comprising the septal nasal cartilage, lateral nasal...
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Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
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The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
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Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...
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Cranial placode differentiation defect in individuals born without a nose.

Vanitha Venkoba Rao1, Xinran Ji1, Jasmine Yi Ying Heng1

  • 1Department of Biological Sciences, National University of Singapore, Singapore, Singapore.

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Bosma arhinia microphthalmia syndrome (BAMS) results from impaired cranial placode cell differentiation and altered cell adhesion. This rare congenital disorder

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Area of Science:

  • Developmental biology
  • Genetics
  • Stem cell research

Background:

  • Bosma arhinia microphthalmia syndrome (BAMS) is a rare congenital disorder characterized by arrhinia, microphthalmia, and reproductive anomalies.
  • The genetic cause of BAMS is linked to heterozygous missense variants in the SMCHD1 gene, an epigenetic regulator.
  • The cellular mechanisms underlying BAMS pathogenesis remain largely unknown.

Purpose of the Study:

  • To investigate the cellular basis of Bosma arhinia microphthalmia syndrome (BAMS).
  • To explore the differentiation potential of patient-derived stem cells toward cranial placode lineages.
  • To identify molecular changes contributing to BAMS pathology.

Main Methods:

  • Differentiation of patient-derived induced pluripotent stem cells (iPSCs) towards the cranial placode lineage.
  • Transcriptome and DNA methylome analyses of differentiated cells.
  • Assessment of cellular phenotypes, including differentiation efficiency and apoptosis.

Main Results:

  • Patient-derived cranial placode progenitor cells exhibited significant differentiation defects.
  • Transcriptomic and epigenomic analyses revealed dysregulation in cell adhesion pathways.
  • No overt signs of apoptosis were detected in the studied cell models.

Conclusions:

  • BAMS pathogenesis involves impaired differentiation of cranial placode cells.
  • Altered cell adhesion contributes to the cellular pathology of BAMS.
  • These findings provide novel insights into the cellular basis of this rare syndrome.