101. 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

DNA- NCBI Genes and Diseases Transporters Back to Index Introduction TRANSPORTERS, CHANNELS AND PUMPS that reside in cell membranes are key to maintaining the right balance of ions in cells, and are vital for transmitting signals from nerves to tissues. 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.

102. EMedicine - Menkes Kinky Hair Disease : Article By Suguru Imaeda, MD In 1962, menkes first described the syndrome, and, 10 years later, In menkeskinky hair syndrome, intestinal copper uptake by brush border cells is http://www.emedicine.com/derm/topic715.htm

(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 Menkes Kinky Hair Disease 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;

103. 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

(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 Menkes Disease 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;

104. 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

Menkes Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Menkes' Disease" Who to Contact Corporation for Menkes Disease 5720 Buckfield Ct. Fort Wayne, IN 46804 This corporation offers a parent and professional network that seeks to provide support and referrals for Menke's Disease families. It also offers a national seminar, networks physicians, a parent newsletter, sibling pen pal program, and a telephone support network. Where to Go to Chat with Others Menkes Kinky Hair Syndrome 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. Learn More About It MEDLINEplus Medical Encyclopedia: Menkes syndrome Menkes Disease From the National Institute of Neurological Disorders and Stroke Menkes Disease From the Online Mendelian Inheritance of Man (OMIM) Menkes Disease From PEDBASE Web Sites Menkes Foundation Menkes Memorial Page Menkes Syndrome Page Back to [ M - N Family Village Home Library Coffee Shop ... Information Last Updated Dec 29, 2003 by

105. UNSW Embryology- Transporters Overview From NCBI Page Links Introduction Cystic Fibrosis Diastrophic Dysplasia LongQT syndromeMenkes syndrome Pendred syndrome Adult Polycystic Kidney Disease Wilson http://embryology.med.unsw.edu.au/DNA/Genes_Diseases/Transport/transport_overvie

UNSW Embryology DNA- NCBI Genes and Diseases Transporters Back to Index Page Links: Introduction Cystic Fibrosis Diastrophic Dysplasia Long-QT Syndrome ... Signals Transport Introduction TRANSPORTERS, CHANNELS AND PUMPS that reside in cell membranes are key to maintaining the right balance of ions in cells, and are vital for transmitting signals from nerves to tissues. 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.

106. ORPHANET - Maladies Rares - Médicaments Orphelins syndrome L affection est allelique au syndrome occipital horn . http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=565

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