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Related Concept Videos

M-Cdk Drives Transition Into Mitosis02:15

M-Cdk Drives Transition Into Mitosis

Checkpoints throughout the cell cycle serve as safeguards and gatekeepers, allowing the cell cycle to progress in favorable conditions and slow or halt it in problematic ones. This regulation is known as the cell cycle control system.
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...
M-Cdk Drives Transition Into Mitosis02:15

M-Cdk Drives Transition Into Mitosis

Checkpoints throughout the cell cycle serve as safeguards and gatekeepers, allowing the cell cycle to progress in favorable conditions and slow or halt it in problematic ones. This regulation is known as the cell cycle control system.
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...
Inhibition of Cdk Activity02:34

Inhibition of Cdk Activity

The orderly progression of the cell cycle depends on the activation of Cdk protein by binding to its cyclin partner. However, the cell cycle must be restricted when undergoing abnormal changes. Most cancers correlate to the deregulated cell cycle, and since Cdks are a central component of the cell cycle, Cdk inhibitors are extensively studied to develop anticancer agents. For instance, cyclin D associates with several Cdks, such as Cdk 4/6, to form an active complex. The cyclin D-Cdk4/6 complex...
Inhibition of CDK Activity02:34

Inhibition of CDK Activity

The orderly progression of the cell cycle depends on the activation of Cdk protein by binding to its cyclin partner. However, the cell cycle must be restricted when undergoing abnormal changes. Most cancers correlate to the deregulated cell cycle, and since Cdks are a central component of the cell cycle, Cdk inhibitors are extensively studied to develop anticancer agents. For instance, cyclin D associates with several Cdks, such as Cdk 4/6, to form an active complex. The cyclin D-Cdk4/6 complex...
Positive Regulator Molecules02:39

Positive Regulator Molecules

Mitotic cell division results in daughter cells that exactly resemble the parent cell. However, errors in the DNA replication or distribution of genetic material may lead to genetic mutations that may be passed down to every new cell formed from the resulting abnormal cell. Propagation of such mutant cells is restricted through checkpoint mechanisms present at different stages of the cell cycle. These checkpoints involve regulator molecules that either promote or demote cell cycle events.
Positive Regulator Molecules01:45

Positive Regulator Molecules

To consistently produce healthy cells, the cell cycle—the process that generates daughter cells—must be precisely regulated.

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Related Experiment Video

Updated: Jun 23, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

A CDKL5 mutated child with precocious puberty.

Veronica Saletti1, Laura Canafoglia, Paola Cambiaso

  • 1Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. vsaletti@istituto-besta.it

American Journal of Medical Genetics. Part A
|April 28, 2009
PubMed
Summary
This summary is machine-generated.

Mutations in the CDKL5 gene typically cause severe developmental delays and epilepsy. This study highlights a new potential symptom: early puberty in a young girl with a CDKL5 gene mutation.

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Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
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Area of Science:

  • Genetics
  • Neurodevelopmental disorders
  • Pediatric endocrinology

Background:

  • Mutations in the CDKL5 gene are associated with a severe neurodevelopmental disorder.
  • The typical CDKL5 disorder phenotype includes early-onset epilepsy, severe intellectual disability, and motor impairments.
  • Some features overlap with Rett syndrome, such as hand stereotypies and social interaction deficits.

Observation:

  • A 5-year-old girl with a de novo CDKL5 gene mutation was studied.
  • This patient exhibited early puberty, a symptom not previously documented in CDKL5 disorder.

Findings:

  • The case report details a novel presentation of CDKL5 gene mutations.
  • Early puberty was observed in a patient with a de novo CDKL5 mutation.
  • This expands the known clinical spectrum of CDKL5-related disorders.

Implications:

  • The findings suggest that early puberty should be considered in the clinical evaluation of patients with CDKL5 mutations.
  • Further research is needed to understand the mechanism linking CDKL5 mutations to precocious puberty.
  • This expands the phenotypic spectrum of CDKL5 disorder and may impact clinical management and genetic counseling.