Primordial Dwarfism
Primordial Dwarfism - Related Videos
05:34
Primordial Germ Cell Transplantation for CRISPR/Cas9-based Leapfrogging in Xenopus
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Cited by 4 •
2018
Genes essential for survival pose technical hurdles for creating mutant lines. Leapfrogging circumvents lethality by combining genome editing with primordial germ cell transplantation to create wild-type animals carrying germline mutations. Leapfrogging also permits the efficient generation of homozygous null mutants in the F1 generation. Here, the transplantation step is demonstrated.
06:22
Primordial Germ Cell Cryopreservation and Revival of Drosophila Strains
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Cited by 7 •
2023
A long-term preservation method for Drosophila strains as an alternative to the frequent transfer of adult flies to fresh food vials is highly desirable. This protocol describes the cryopreservation of Drosophila primordial germ cells and strain revival via their transplantation to agametic host embryos.
12:06
Generation of Human Primordial Germ Cell-like Cells at the Surface of Embryoid Bodies from Primed-pluripotency Induced Pluripotent Stem Cells
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Cited by 9 •
2019
Primordial germ cells (PGCs) are common precursors of both sperm and eggs. Human embryonic PGCs are specified from pluripotent epiblast cells through interactions of cytokines. Here, we describe a 13-day protocol of inducing human cells transcriptomally resembling PGCs at the surface of embryoid bodies from primed-pluripotency induced pluripotent stem cells.
21:01
Generating Chimeric Zebrafish Embryos by Transplantation
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Cited by 61 •
2009
A step-by-step guide to generating targeted chimeric zebrafish embryos by transplantation at the blastula or gastrula stage.
08:18
Degassing Liquids with Freeze-Pump-Thaw Cycling
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2023
Source: Laboratory of Dr. Neil Branda — Simon Fraser University Degassing refers to the process by which dissolved gases are removed from a liquid. The presence of dissolved gases such as oxygen or carbon dioxide can impede chemical reactions that utilize sensitive reagents, interfere with spectroscopic measurements, or can induce unwanted bubble formation. A number of different techniques are available for degassing liquids; some of these include heating, ultrasonic agitation, chemical...
FAQs
The responsible mutations can disrupt growth regulation, cell division, centrosome function, or DNA repair. These processes are essential for producing cells, organizing cellular structures, and maintaining genetic information during development. When they are impaired, fewer cells may be produced or developed normally, limiting skeletal and overall body growth from early development onward.
Growth patterns provide important diagnostic clues. Restriction that is already evident before birth and remains proportionate after birth helps clinicians distinguish these disorders from conditions with different developmental timing or disproportionate effects on body regions. Reviewing both prenatal and postnatal growth allows the evaluation to connect early development with the individual's later physical findings.
Centrosome function is one of the cellular processes implicated in some forms of Primordial Dwarfism. Because centrosomes help support cell division, disruption can interfere with the production and development of cells during growth. This offers a mechanistic link between a molecular defect and restricted development of the skeleton and other body tissues.
Evaluation combines the history of prenatal and postnatal growth with physical examination, imaging, and genetic testing. Clinicians use these sources together rather than relying on stature alone. The combined findings help identify a specific form, distinguish related disorders, and recognize associated neurological, vascular, skeletal, or metabolic concerns that may require further medical attention.
Medical follow-up should be tailored to complications that may involve the neurological, vascular, skeletal, and metabolic systems. Monitoring is important because the underlying growth-related disorder can affect more than height. Identifying concerns in these areas supports earlier clinical attention and helps care teams adapt surveillance to the individual's findings and diagnosed form.
Identifying the specific form through clinical assessment and genetic testing can improve genetic counseling by clarifying the biological basis of the disorder for affected families. The same information supports research into human growth and developmental biology. Studying altered growth regulation, cell division, centrosome function, and DNA repair can connect clinical findings with fundamental developmental mechanisms.