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Related Concept Videos

Cranial Nerves: Overview and Anatomy01:19

Cranial Nerves: Overview and Anatomy

The cranial nerves are an important part of the complex network of nerves in the human body. These nerves emerge directly from the brain and are responsible for transmitting essential information between the brain and various parts of the head and neck. There are 12 pairs of cranial nerves, systematically numbered using Roman numerals from I to XII, beginning from the anterior and moving to the posterior of the brain. Each cranial nerve is uniquely identified by names that reflect its function...
Cranial and Spinal Meninges01:19

Cranial and Spinal Meninges

The cranial and spinal meninges are complex protective structures surrounding the central nervous system (CNS), consisting of the brain and spinal cord. These meninges consist of the dura mater, the arachnoid mater, and the pia mater. They protect the CNS, provide structural support, and aid in circulating cerebrospinal fluid (CSF).
Cranial Meninges
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Sutures of the Skull01:22

Sutures of the Skull

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.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Cranial Nerves: Types Part I01:14

Cranial Nerves: Types Part I

Cranial nerves are responsible for transmitting motor and sensory information between the brain and various parts of the body. There are twelve pairs of cranial nerves, with the first six being essential in sensory perception, motor control, and autonomic functions related to the head and neck.
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The olfactory nerve, or cranial nerve I, is unique as it is purely sensory and dedicated to the sense of smell. This nerve originates in the olfactory epithelium of the...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
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Cranial Nerves: Types Part II01:22

Cranial Nerves: Types Part II

Cranial nerves are responsible for transmitting motor and sensory information between the brain and various parts of the body. There are twelve pairs of cranial nerves. While the first six innervate the head and neck, the latter six nerves innervate the head and neck, as well as organs and tissues in the thoracic and abdominal cavities. They facilitate communication, expression, and autonomic control within the human body.
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Related Experiment Video

Updated: Jun 10, 2026

Single-stage Dynamic Reanimation of the Smile in Irreversible Facial Paralysis by Free Functional Muscle Transfer
19:53

Single-stage Dynamic Reanimation of the Smile in Irreversible Facial Paralysis by Free Functional Muscle Transfer

Published on: March 1, 2015

Cerebro-oculo-facio-skeletal syndrome.

Hiroshi Suzumura1, Osamu Arisaka

  • 1Department of Pediatrics, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi, Japan. suzumura@dokkyomed.ac.jp

Advances in Experimental Medicine and Biology
|August 7, 2010
PubMed
Summary

Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare genetic disorder affecting DNA repair. Mutations in genes crucial for transcription-coupled Nucleotide Excision Repair (NER) cause this condition, leading to severe developmental issues and photosensitivity.

Related Experiment Videos

Last Updated: Jun 10, 2026

Single-stage Dynamic Reanimation of the Smile in Irreversible Facial Paralysis by Free Functional Muscle Transfer
19:53

Single-stage Dynamic Reanimation of the Smile in Irreversible Facial Paralysis by Free Functional Muscle Transfer

Published on: March 1, 2015

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder.
  • It is characterized by congenital microcephaly, cataracts, arthrogryposis, developmental delay, growth failure, and facial dysmorphism.
  • COFS syndrome is now understood as part of a spectrum of inherited defects in Nucleotide Excision Repair (NER).

Purpose of the Study:

  • To investigate the molecular basis of COFS syndrome.
  • To understand the role of Nucleotide Excision Repair (NER) pathways in COFS syndrome.
  • To identify specific genes involved in the pathogenesis of COFS syndrome.

Main Methods:

  • Molecular genetic analysis of affected individuals.
  • Study of DNA repair pathways, specifically transcription-coupled NER.
  • Analysis of mutations in known NER-related genes.

Main Results:

  • Fourteen cases of COFS syndrome were studied at the molecular level.
  • All identified mutations were found in genes associated with the transcription-coupled NER pathway.
  • These genes include CSB, XPD, XPG, and ERCC1.

Conclusions:

  • COFS syndrome is caused by defects in the transcription-coupled NER pathway.
  • Impaired DNA repair in this pathway underlies the clinical manifestations of COFS syndrome.
  • Mutations in CSB, XPD, XPG, and ERCC1 are implicated in COFS syndrome, linking it to other NER disorders.