The Human Genome - Transporters Overview From NCBI Pendred syndrome, looks to be associated with a defect in a sulphate menkes syndrome. menkes syndrome is an inborn error of metabolism that http://anatomy.med.unsw.edu.au/cbl/GENOME/Genes_Diseases/Transport/transport_ove
Extractions: The consequences of defects in ion channels and transporters are diverse, depending on where they are located and what their cargo is. In the heart, defects in potassium channels do not allow proper transmission of electrical impulses, resulting in the arrythmia seen in long QT syndrome. In the lungs, failure of a sodium and chloride transporter found in epithelial cells leads to the congestion of cystic fibrosis, while one of the most common inherited forms of deafness, Pendred syndrome, looks to be associated with a defect in a sulphate transporter. Link to NCBI page CYSTIC FIBROSIS Top of page CYSTIC FIBROSIS (CF) is the most common fatal genetic disease in the US today. It causes the body to produce a thick, sticky mucus that clogs the lungs, leading to infection, and blocks the pancreas, stopping digestive enzymes from reaching the intestines where they are required to digest food.
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Last Updated: April 16, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: steely hair syndrome, trichopoliodystrophy, copper metabolism, copper deficiency, pili torti, hair-shaft abnormality AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Suguru Imaeda, MD , Chief of Health Services Dermatology, Clinical Associate Professor, Department of Dermatology, Yale University School of Medicine Suguru Imaeda, MD, is a member of the following medical societies: American Academy of Dermatology American Medical Association Connecticut State Medical Society Sigma Xi , and Society for Investigative Dermatology Editor(s): Mark A Crowe, MD , Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine;
EMedicine - Menkes Disease : Article By Celia H Chang, MD Milder variants of menkes disease, including occipital horn syndrome (also knownas Xlinked cutis laxa or Ehlers-Danlos type 9) also have been described. http://www.emedicine.com/neuro/topic569.htm
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Last Updated: February 8, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: kinky hair disease AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Celia H Chang, MD , Assistant Professor, Department of Neurology, University of California at Davis Celia H Chang, MD, is a member of the following medical societies: American Academy of Neurology , and Child Neurology Society Editor(s): Beth A Pletcher, MD , Co-Director of The Neurofibromatosis Center of New Jersey, Associate Professor, Department of Pediatrics, University of Medicine and Dentistry of New Jersey; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, eMedicine; Kenneth J Mack, MD, PhD , Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic;
Menkes' Disease menkes Kinky Hair syndrome This is a support eGroup open to anyone interested inmaking friends, sharing information and providing support for persons http://www.familyvillage.wisc.edu/lib_menk.htm
Extractions: This is a support eGroup open to anyone interested in making friends, sharing information and providing support for persons affected by "Menkes Kinky Hair Syndrome." Affected individuals, family members, friends, medical professionals and rare disease researchers are all encouraged to join this open forum. MEDLINEplus Medical Encyclopedia: Menkes syndrome
Extractions: The consequences of defects in ion channels and transporters are diverse, depending on where they are located and what their cargo is. In the heart, defects in potassium channels do not allow proper transmission of electrical impulses, resulting in the arrythmia seen in long QT syndrome. In the lungs, failure of a sodium and chloride transporter found in epithelial cells leads to the congestion of cystic fibrosis, while one of the most common inherited forms of deafness, Pendred syndrome, looks to be associated with a defect in a sulphate transporter. Link to NCBI page CYSTIC FIBROSIS Top of page CYSTIC FIBROSIS (CF) is the most common fatal genetic disease in the US today. It causes the body to produce a thick, sticky mucus that clogs the lungs, leading to infection, and blocks the pancreas, stopping digestive enzymes from reaching the intestines where they are required to digest food.
