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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Neurulation01:30

Neurulation

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 anterior...
Type II Diabetes II: Pathophysiology01:24

Type II Diabetes II: Pathophysiology

PathophysiologyType 2 diabetes mellitus (T2DM ) is a chronic metabolic disorder characterized by insulin resistance and progressive pancreatic β-cell dysfunction, leading to impaired glucose homeostasis. It results from interactions among genetic predisposition, environmental factors, and metabolic stressors, such as overnutrition and a sedentary lifestyle.Insulin Resistance and Glucose DysregulationEarly T2DM involves insulin resistance in skeletal muscle, adipose tissue, and the liver.
Spinal Nerves: Plexus II01:21

Spinal Nerves: Plexus II

The plexuses of the lower body include the lumbar, sacral, and coccygeal plexuses, which innervate the abdomen, pelvis, legs, and coccygeal region. These plexuses control the transmission of sensory information and coordinate motor functions of the lower body.
The Lumbar Plexus
The lumbar plexus is situated within the lumbar region of the back and is primarily formed by the first four lumbar spinal nerves (L1 to L4). This plexus extends its branches into several nerves, including the...
Enzyme-linked Receptors01:00

Enzyme-linked Receptors

Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...

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Updated: Jun 22, 2026

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
03:53

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

Published on: October 10, 2025

Neurofibromatosis type 2.

Ashok R Asthagiri1, Dilys M Parry, John A Butman

  • 1Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA. asthagiria@ninds.nih.gov

Lancet (London, England)
|May 30, 2009
PubMed
Summary
This summary is machine-generated.

Neurofibromatosis type 2 (NF2) is a genetic disorder causing tumors, neuropathy, and lesions. Management requires a multidisciplinary approach due to its complex and progressive nature.

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Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1
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Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1

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Area of Science:

  • Genetics
  • Oncology
  • Neurology

Background:

  • Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder.
  • Caused by mutations in the NF2 tumor suppressor gene on chromosome 22q.
  • Affects 1 in 25,000 livebirths with high penetrance.

Purpose of the Study:

  • To review the molecular pathogenesis of NF2.
  • To discuss the genetics and clinical findings of NF2.
  • To outline management strategies for NF2.

Main Methods:

  • Literature review of molecular pathogenesis.
  • Analysis of genetic inheritance patterns.
  • Compilation of clinical manifestations and treatment approaches.

Main Results:

  • NF2 results in nervous system tumors (schwannomas, meningiomas), peripheral neuropathy, and ophthalmological/cutaneous lesions.
  • Half of cases arise from inherited mutations, the other half from de novo mutations.
  • Disease progression and varied lesion types necessitate complex, multidisciplinary care.

Conclusions:

  • NF2 is a complex genetic syndrome requiring comprehensive management.
  • Understanding molecular pathogenesis aids in developing targeted therapies.
  • Multidisciplinary care is crucial for optimizing patient outcomes in NF2.