61. Collagen COL4A3 Knockout: A Mouse Model For Autosomal Alport Syndrome -- Cosgrov Department of genetics, Boys Town National Research Hospital, Omaha, A mousemodel for the autosomal form of alport syndrome was produced. http://www.genesdev.org/cgi/content/abstract/10/23/2981

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Cosgrove, D. Articles by Samuelson, G. C. RESEARCH PAPERS Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome D Cosgrove, DT Meehan, JA Grunkemeyer, JM Kornak, R Sayers, WJ Hunter and GC Samuelson Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA. A mouse model for the autosomal form of Alport syndrome was produced. These mice develop a progressive glomerulonephritis with microhematuria and proteinuria, consistent with the human disease. End-stage renal disease develops at approximately 14 weeks of age. TEM analysis of the glomerular basement membranes (GBM) during development of renal pathology revealed focal multilaminated thickening and thinning beginning in the external capillary loops at 4 weeks and spreading throughout the GBM by 8 weeks. By

62. Informagene - Dizionario Translate this page Tryggvason K. Molecular pathology and genetics of alport syndrome. Contributions toNephrology 117, Karger, Basilea, 1996. - Turco AE et al. http://www.telethon.it/informagene/dettaglio_malattia.asp?id=72

63. CIN'2003. Suzanne Meleg-Smith. Enfermedad De Alport: Un Diagnóstico Difícil Translate this page Toren, A., et al., Genetic linkage of autosomal-dominant alport syndrome withleukocyte Tryggvason, K., et al., Molecular genetics of alport syndrome. http://www.uninet.edu/cin2003/conf/smelegs/smelegs.html

Discussion Board Paneles de Discussión Paneais de Discussio Free Papers ... Voltar ao inicio cin2003 Enfermedad de Alport: un diagnóstico difícil Suzanne Meleg-Smith, MD Professor, Pathology. Head, Renal Pathology Tulane University, New Orleans, LA. USA ssmith1@tulane.edu Investigaciones recientes han demostrado el defecto básico responsable de la Enfermedad de Alport (EA): mutaciones en los genes del colágeno tipo IV. Al mismo tiempo, como el diagnóstico sigue representando un desafío frecuente tanto para el nefrólogo como para el patólogo, analizaré y trataré de aclarar algunas de las dificultades clínicas y patológicas que se presentan en esta enfermedad. Los temas a tratar son: Definición Presentación clínica Membrana basal glomerular (MBG) normal: colágeno tipo IV Aspectos genéticos de la EA La biopsia renal Correlacion clínico-patológica Definición La EA es causada por un defecto congénito del colágeno tipo IV, afectando la membrana basal en diversas localizaciones, especialmente en el glomérulo renal, resultando en presentaciones clínicas variables. Presentación clínica de la enfermedad de Alport (EA).

64. Physiology Department Faculty And Their Research Tryggvason K (ed) Molecular Pathology and genetics of alport syndrome, ContribNephrol. Basel, Karger, 117128, 1996. Barker DF, Atkin CL, Gregory MC and http://medstat.med.utah.edu/physio/faculty/barker.html

DAVID F. BARKER Research Associate Professor email: david.f.barker@m.cc.utah.edu Education Research Interests Publications Education September 1971 - June 1975: Massachusetts Institute of Technology, Bachelor of Science in Life Sciences September 1975 - August 1980: Stanford University Department of Biological Sciences, Ph.D. awarded Oct. 2, 1980 September 1980 - January 1984: Howard Hughes Medical Institute, University of Utah Medical School, Post-doctoral research with Professor Raymond L. White Research Interests Dr. Barker's interests include the genetic basis of inherited susceptibility to disease in individuals and populations. One area of current research focus is on the disease genetics of type IV collagens, which are involved in susceptibility to renal failure, hearing loss and other pathological conditions caused by abnormal basement membranes. A second focus is on the contribution of specific genomic rearrangements to the etiology of sporadic breast cancer. High molecular weight DNA samples have been prepared from over 1000 sporadic breast tumors and these are being examined for rearrangements in specific genes for which changes in expression may contribute to the development of neoplasia. Publications (Go to the complete list in PDF Format.)

65. IOVS -- Sign In Page Clinical and molecular genetics of Stickler syndrome. J Med Genet. Autosomaldominant alport syndrome linked to the type IV collage alpha 3 and alpha 4 http://www.iovs.org/cgi/content/full/45/12/4498

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Full Text Genetic Linkage of Snowflake Vitreoretinal Degeneration to Chromosome 2q36 Jiao et al. Invest. Ophthalmol. Vis. Sci.. This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Jiao, X. Articles by Edwards, A. O. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$15.00 Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

66. EMedicine - Alport Syndrome : Article By Ramesh Saxena, MD, PhD alport syndrome In 1927, Cecil A. alport described 3 generations of a family with Since that time, identification of genetic loci involved in AS has http://www.emedicine.com/med/topic110.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Nephrology Alport Syndrome Last Updated: August 15, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: AS, hereditary nephritis, deafness, hematuria, type IV collagen, end-stage renal disease, ESRD, glomerular basement membrane, GBM, tubular basement membrane, TBM, autosomal dominant Alport syndrome, ADAS, autosomal recessive Alport syndrome, ARAS, X-linked Alport syndrome, XLAS, leiomyomatosis, anterior lenticonus, dot-and-fleck retinopathy, proteinuria AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Ramesh Saxena, MD, PhD , Assistant Professor, Department of Internal Medicine, Division of Nephrology, University of Texas Southwestern Medical Center Ramesh Saxena, MD, PhD, is a member of the following medical societies: American Medical Association American Society of Nephrology International Society for Peritoneal Dialysis International Society of Nephrology , and National Kidney Foundation Editor(s): Frank C Brosius III, MD

67. Project: Molecular Genetic And Functional Research Into The Pathogenesis Of Alpo Abstract, The primary defect of alport syndrome (AS) and some forms of Familial The pathogenesis is studied by means of molecular genetic and functional http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1282101/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Molecular genetic and functional research into the pathogenesis of Alport's syndrome and forms of familial benign hematuria Print View Titel Moleculair genetisch en functioneel onderzoek naar de pathogenese van het syndroom van Alport en vormen van familiaire benigne hematurie Abstract The primary defect of Alport Syndrome (AS) and some forms of Familial Benign Hematuria (FBH) resides in type-IV collagen. How these defects are becoming manifest and which other factors play a role is studied in this project. The pathogenesis is studied by means of molecular genetic and functional analyses. This is important for diagnostics, prognosis and possibly treatment of the patients. Moreover, basic information is obtained on the normal (embryonic) development of the kidney. 1. Molecular genetic studies: Mutation detection in COL4 genes is labour-intensive and has a relatively low score of 50%. Therefore the DNA microarray technique is introduced in order to be able, in due time, to rapidly determine the complete COL4A5 sequence and to assess the genetic predisposition of an individual with more precision. With conventional techniques mutations in the COL4A3- and COL4A4-genes in autosomal AS and FBH are sought. In view of the prognosis it is of paramount importance to discriminate these genetically. 2. Functional studies: The primary COL4-defects cause a disturbance of other GBM proteins and possibly also of synthesis and degradation of GBM. These changes may reflect a pathogenic continuation of the embryonal situation. Through cDNA micro-arrays expression patterns of both basal membrane genes and regulating enzymes and factors will be determined. With Western blots and immunohistochemistry the proteins themselves will be monitored. Research material is an embryonic, manipulable kidney tissue model (metanephros), as well as kidney material from Alport patients and controls.

68. Alport Syndrome And Mental Retardation: Clinical And Genetic Dissection Of The C alport syndrome and mental retardation clinical and genetic dissection of thecontiguous X linked alport syndrome (ATS, OMIM 301050) is a hereditary http://jmg.bmjjournals.com/cgi/content/full/39/5/359

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders ... Cited by other online articles PubMed PubMed Citation Articles by Meloni, I Articles by Renieri, A Related Collections Genetics Journal of Medical Genetics Journal of Medical Genetics LETTER TO JMG Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) I Meloni F Vitelli L Pucci R B Lowry R Tonlorenzi E Rossi M Ventura G Rizzoni C E Kashtan B Pober and A Renieri Department of Medical Genetics, University of Siena, Italy Department of Paediatrics, University of Siena, Italy Department of Medical Genetics, Alberta Children's Hospital, Calgary, Canada

69. Mosaicism In Alport Syndrome And Genetic Counselling -- BRUTTINI Et Al. 37 (9): Mosaicism in alport syndrome and genetic counselling In this family themutation is associated with juvenile alport syndrome in males, suggesting that http://jmg.bmjjournals.com/cgi/content/full/37/9/717

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders ... Download to citation manager PubMed PubMed Citation Articles by BRUTTINI, M. Articles by RENIERI, A. Related Collections Genetics J Med Genet 717-719 ( September ) Letters to the editor Mosaicism in Alport syndrome and genetic counselling E DITOR Alport syndrome is characterised by a progressive glomerulonephritis with typical ultrastructural changes in the glomerular basement membrane. The most frequent, semidominant, X linked type is the result of a variety of mutations (either point mutations or intragenic deletions) of the gene encoding the 5 chain of type IV collagen.

70. Alport's Syndrome - Patient UK Arrange genetic counselling. Incomplete penetrance of alport syndrome in femalesmust always be kept in mind genetic tests may soon be available for http://www.patient.co.uk/showdoc/40001344/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Alport's Syndrome Synonym: Familial hereditary nephritis A familial nephritis characterized by haematuria , progressive renal failure, neurosensory hearing loss , and a plethora of ocular abnormalities. Prevalence 1:5000. Inheritance is variable: X-linked dominant (Xq22) , autosomal recessive (~15%) or rarely autosomal dominant (~1%). Up to 20% have no family history (high spontaneous mutation rate). Pathology Thickened glomerular basement membrane with splitting of the lamina densa. Clinical features Progressive haematuric nephritis, sensorineural deafness and ocular abnormalities (lens - cataracts , microspherophakia, posterior or anterior lenticonus). Complications: Nephritic Syndrome (oedema, hypertension, uraemia, oliguria Nephrotic Syndrome (oedema, hypoalbuminaemia, hyperlipidaemia ) and end stage renal failure (ESRF). It accounts for 3% of

71. UpToDate Hereditary Nephritis (Alport Syndrome) INTRODUCTION — Hereditary nephritis (or alport syndrome) is a progressive The genetic defects in these patients involve the COL4A3 and COL4A4 genes, http://patients.uptodate.com/topic.asp?file=glomrdis/7197

72. Resources For Genetic Counselors - Alport Syndrome alport syndrome Posted on Monday, February 07 @ 211124 EST by debi GeneticCounseling Outlines alport syndrome Fact Sheet May 2004 http://www.genesoc.com/counseling2/article9.html

73. GEMdatabase - Selected Title TITLE, alport syndrome. DESCRIPTION, This review focuses on the diagnosis, and genetic counseling of patients and families with alport syndrome. http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=824

74. GEMdatabase - Browse Titles alport syndrome This review focuses on the diagnosis, management, and geneticcounseling of patients and families with alport syndrome. http://www.gemdatabase.org/GEMDatabase/BrowseTitles.asp?curpage=2

75. MEDArticleMgr alport syndrome is very similar to hereditary nephritis. The disorder isuncommon, and most often affects males since the genetic defect is typically http://www.drgreene.org/body.cfm?id=49&action=Display&articlenum=504

76. Pacific Fertility Center - Pre-Implantation Genetic Diagnosis (PGD) In the past, once the diagnosis of a genetic disease was determined, parentscould only be alport syndrome (COL4A5) Alzheimer (very early onsetPSEN1) http://www.infertilitydoctor.com/genetic/pgd.htm

Pre-Implantation Genetic Diagnosis (PGD) Genetics and Male Infertility Genetics FAQs The Bay Area PGD Program Brochure (PDF) For some couples, the birth of a child with significant birth defects or a serious medical condition is the first indication that one or both of the parents may carry a genetic mutation that may result in a genetic disorder for their children. Other individuals may know they carry genetic mutations because of other affected family members. Some couples have been tested for common genetic mutations such as cystic fibrosis or sickle cell anemia and are aware prior to conceiving a child that they are at risk of having a child with serious medical problems. In the past, once the diagnosis of a genetic disease was determined, parents could only be counseled about the risks of having a child with that specific disease. With the development of amniocentesis and chorionic villus sampling (pre-natal genetic testing) and the development of the ability to test the DNA (genes) of the fetus directly, a couple can know fairly early in pregnancy if their child will be affected with the disease. They then face the difficult decision of whether or not to terminate the pregnancy. The Human Genome Project has greatly expanded our knowledge of the exact molecular basis of many familial diseases. The list of diseases for which the specific mutation or mutations is known is growing daily.

77. JN 2003; Vol.16 N°2: 314-316 Key words alport syndrome, COL4A4, COL4A3, COL4A5, Collagen IV, Benign familial Renieri A. Mosaicism in alport syndrome and genetic counseling. http://www.sin-italy.org/jnonline/vol16n2/314.html

Table of Contents Meeting Proceeding J NEPHROL 2003; 16: 314-316 Type-IV collagen related diseases Chiara Pescucci, Ilaria Longo, Mirella Bruttini, Francesca Mari, Alessandra Renieri - Medical Genetics, Department of Molecular Biology, University of Siena, Siena - Italy Key words: Alport syndrome, COL4A4, COL4A3, COL4A5, Collagen IV, Benign familial hematuria We performed a comprehensive mutation screen of COL4A3 and COL4A4, which allowed us to detect eight novel mutations in six out of 36 Italian families (10). Together with cases displaying typical features of recessive ATS, i.e. rapidly sex-independent progressive nephritis or parental consanguinity, the study included sporadic male and female patients who had tested negative for COL4A5 mutations. Our analysis of COL4A3 and COL4A4 resulted in the identification of many changes, among which only eight could be confidently considered pathogenic. None were in a homozygous state, which would have been useful to evaluate their role: in COL4A3 four mutations were found in compound heterozygotes and three in simple heterozygotes, as the single COL4A4 mutation. COL4A3 and COL4A4 mutations can be classified in two groups expected to cause either the production of an abnormal alpha-chain or to reduce its synthesis, and operationally sub-divided as to whether they are present alone ­ likely autosomal dominant, or belong to compound heterozygous genotypes ­ likely autosomal recessive. While in recessive cases both null- and abnormal-chain mutations are found, the dominant inheritance seems limited to mutations predicted to result in the production of an abnormal chain. This hypothesis agrees with the observation that the only reported autosomal dominant ATS family had a large in-frame deletion of the alpha3(IV) chain, resulting from the skipping of exon 21 (9).

78. Hereditary Kidney Disorders - Evanston Northwestern Healthcare Genetic alterations can occur de novo in up to 10% of cases. alport syndromeis a condition which involves inflammation of the kidneys leading to http://www.enh.org/healthandwellness/clinicalservices/genetics/conditions/index.

79. THE MERCK MANUAL--SECOND HOME EDITION, Gene Abnormalities In Ch. 2, Genetics Abnormal genetic traits are often caused by new genetic mutations rather than nephritis) (see Tubular and Cystic Kidney Disorders alport s syndrome). http://www.merck.com/mmhe/sec01/ch002/ch002b.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Fundamentals Chapter Genetics Topics Introduction Gene Abnormalities Gene Technology Gene Therapy Gene Abnormalities Buy The Book Print This Topic Email This Topic Pronunciations chronic myelocytic leukemia fibrosis hemoglobin malaria ... oncogenes Abnormalities of one or more genes, particularly recessive genes, are fairly common. Every human being carries an average of six to eight abnormal recessive genes. However, these genes do not cause cells to function abnormally unless two copies of an abnormal recessive gene are present. In the general population, the chance of a person having two copies of an abnormal recessive gene is very small, but in children of close relatives, the chances are higher. Chances are also high among groups that intermarry, such as the Amish or Mennonites. An abnormal gene may be inherited or may arise spontaneously as a result of a mutation (a sudden change in a gene arising as a result of any one of a number of causes or for no apparent cause at all). Depending on whether the mutation affects the reproductive cells or not, the mutation may be passed on to future generations or may simply die out with the person who has the mutation.

80. 153650 EPSTEIN SYNDROME (1992) reported studies of 31 families with alport syndrome. J.P.; Tryggvason,K.; Hors-Cayla, M.-C. alport syndrome a genetic study of 31 families. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:153650] -e

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