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Alport Syndrome Genetics: more detail

Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology)
The Molecular Genetics of X-Linked Alport Syndrome (Acta Biomedica Lovaniensia) by Caiying Guo, 1995-11
Familial nephritis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005
Hereditary nephropathy with hearing loss: "Alport's syndrome" (Acta paediatrica Scandinavica : Supplement) by Ulla Marianne Iversen, 1974

lists with details

:: Department Of Medical Genetics ::
Medical genetics), FCCMG Professor Emeritus, Department of Medical genetics Director,Alberta G., Kashtan CE, Pober B., Renieri A. alport syndrome and Mental
http://www.fp.ucalgary.ca/medicalgenetics/pages/pages_faculty/brian_lowry.html

Extractions: I continue to study the frequency and trends of congenital anomalies in Alberta, using the database of the Alberta Congenital Anomalies Surveillance System (ACASS). The data on neural tube defects is being used in a multi province study to examine the effect of fortification of folic acid in flour which took place in Canada in 1998. The ACASS staff participated in a study of the completeness and accuracy of our data which was done in conjunction with the Health Surveillance Branch of Alberta Health and Wellness. ACASS data was used to help in the study of congenital foot deformities and their association with early amniocentesis (see Yoon et al).
Genetics And Genetic Engineering
Albinism, alport syndrome. Angelman syndrome, Cystic Fibrosis. Ataxia, Downsyndrome. HHMI s Blazing a Genetic Trail, Birth defects and genetics.
http://www.schools.ash.org.au/immanuel/genetics.htm

Extractions: General Genetic engineering Human genetics Genetically modified food ... Cloning General Genetic Science Learning Center Genetics/Biotechnology Theme Biotechnology Australia Links to the Genetic World ... Mutant Fruit Flies: Exploratorium Exhibit Genetic engineering Biocapitalismwhat price the genetic revolution Biotechnology index page Council for Responsible Genetics Embracing Change with All Four Arms ... What is genetic engineering? Genetic disorders and diseases General Resources Genetic diseases Achromatopsia Albinism ... Birth defects and Genetics Human genetics CogPrints: Cognitive Science Eprint Archive OMNI Subject Listing for Genetics American Journal of Human Genetics European Federation of Biotechnology ... What Is DNA and the Human Genome Project Backto Library Home Page
Centre For Human Genetics Seminars October 1999
Human genetics in the Greater UCL week by week. October 1999. Week starting Monday4 October. Tuesday 5 October 15.35 Recurrence of Disease in alport s syndrome
http://www.gene.ucl.ac.uk/chg/semsoct99.html
Untitled Document
Shows TB Molecular genetics of alport syndrome. Kidney int 1993;4338-44.
http://www.aanefrologia.com/sito/Alport.htm

Extractions: Ancora oggi rimane dubbia la esistenza di una forma autosomica dominante di Sindrome di Alport. Con il progredire della malattia compare assai frequentemente l'ipertensione arteriosa. Le caratteristiche delle differenti mutazioni presentate dal gene che codifica la sintesi della catena A5 del collagene IV rendono conto delle diverse caratteristiche del quadro clinico presentato dai singoli pazienti e dai loro familiari. I recenti progressi di biologia molecolare relativi allo studio genetico della sindrome di Alport, possono spesso permettere una diagnosi diretta di malattia per mezzo della identificazione della specifica mutazione presentata dai pazienti. BIBLIOGRAFIA 1-Sessa A, Renieri A, Battaglia C: Alport syndrome: clinical molecular and genetic aspects. J Nephrol 1994;7:102-116 2-Sessa A, Meroni M, Battini G: Hereditary nephritis. Contributions to Nephrology 1990;80:1-165 3-Tryggvason K, Zhou J, Hostikka S L, Shows T B: Molecular genetics of Alport syndrome. Kidney int 1993;43:38-44
Molecular Genetics
Aims of the Molecular genetics Research Group. approach we have used on the haemophiliashas been broadened to include other diseases such as alport syndrome.
http://www.kcl.ac.uk/depsta/memoge/moleculargenetics.html

Extractions: Head of Molecular Genetics Research Group Peter Green graduated from Cardiff in 1980 and completed his PhD on the molecular genetics of Aspergillus nidulans in 1984. He joined the department as a postdoc the same year working on mutation characterisation in the factor IX gene. He became a lecturer in the Division in 1991 Lab Staff: Lab alumni Richard Bagnall Dr Naushin Waseem Theo Anagnostopoulos Aims of the Molecular Genetics Research Group The main focus of our grouphas been on the haemophilias and developing strategies to identify all mutations in the two coagulation factor genes responsible (f8 and f9). In recent years the approach we have used on the haemophilias has been broadened to include other diseases such as Alport syndrome. We have set up National mutation and pedigree databases for both haemophilias in collaboration with the UK haemophilia Centres The solid phase fluorescent chemical cleavage of mismatch technique for mutation scanning was developed in the lab and applied to SNP detection and scoring across large sequenced genomic DNA regions. This approach has led to novel insights into linkage disequilibrium blocks and recombination. Haemophilia A mutation database project.
Molecular Genetics Publications
(1999) Advances in genetics, vol 41. Plant KE, Green PM, Vetrie D Flinter FA(1999) Detection of mutations in COL4A5 in patients with alport syndrome.
http://www.kcl.ac.uk/depsta/memoge/moleculargeneticspublications.html

Extractions: Giannelli F (2001) Mitochondria and the quality of human gametes. (Letter) Am J Hum Genet, 68, 1535-1537. Giannelli F (2001) Gene mutations and pedigrees. Lancet, 358, s33. Giannelli F (2001 Christmas Disease. In: Encyclopedia of Genetics. S Brenner (ed). San Diego; London: Academic Press. 338. Giannelli F (2001) Hemophilia. In: Encyclopedia of genetics. S Brenner (ed). San Diego; London: Academic Press. 917-920. Green PM (2001) This bad blood. Lancet, 358, s34.
Ustav Biologie A Lekarske Genetiky 2.LF UK A FNM
Internal Grant Agency (IGA MZ ÈR) Molecular genetics diagnostics of Turner syndrome- method of in COL4A5 geny in patients with alport syndrome.(IGA 3783-3
http://ublg.lf2.cuni.cz/e_research.html

Extractions: "Longitudinal, comprehensive, clinical and genetic study of prenatal and postnatal development of patients and their families with the most serious inborn errors and inherited disorders. Projects from the IBMG that are encompassed in the below 2.School of Medicine research projects: Diagnosis of inborn and inherited glomerulal disorders
VSpring Capital :: Management :: Advisors :: Albert Bertha
He received his Ph.D. in genetics at Stanford University. specifically Hemochromatosis,Antithrombin III Deficiency, alport syndrome, Neurofibromatosis I
http://www.vspring.com/man_adv_skolnick.html

Extractions: Dr. Skolnick co-founded Myriad Genetics, Inc. in 1991, where he is currently Chief Scientific Officer. Myriad Genetics is an emerging biopharmaceutical company focused on the development of therapeutic and diagnostic products that are based on the use of genomic and proteomic technologies. Myriad Genetics is currently seeking the genes which predispose to cancer, coronary heart disease, central nervous system disorders, obesity, osteoporosis, and asthma. With Drs. Botstein and Davis, he conceptualized the use of restriction fragment length polymorphisms (RFLPs) to systematically pinpoint genetic traits on chromosomes. An updated version of this technology has been used to create a genetic map of the human genome, the first step in the human genome project. Dr. Skolnick received a Bachelor of Arts degree from UC Berkeley in Economics, where he also studied demography. He received his Ph.D. in genetics at Stanford University. Dr. Skolnick joined the University of Utah faculty in 1974. He holds positions in both the departments of Biology and Medical Informatics, where he is currently a professor.
1°
Casari G. (Milan) Molecular genetics of autosomal dominant medullary cystic FlinterF. (London) - Clinical diagnostic aspect of alport s syndrome; Karet FE
http://utenti.lycos.it/FMRB/Programme.htm

Extractions: Held under the auspices of the International Society of Nephrology st Course in Genetics and Renal Disease La Nunziata Center, Sestri Levante (Genova) November, 15-18 2000 Directors: Jean-Pierre Grunfeld (Paris), Rosanna Gusmano (Genova), Roberto Ravazzolo (Genova) NOVEMBER 15, WEDNESDAY Morning Session Break Afternoon Session Workshops Session Winyard P.J.D. (London) - The functional roles of TGF b and PAX2 in human renal dysplasia Ellard S (Exeter) - Practical methods in mutation detection Woolf A. (London)
Useful Links
Alliance http//www.alagille.org; alport syndrome Home Page http http//www.csmc.edu/genetics/skeldys/default com/hotsprings/2179;Joubert syndrome Foundation Corp
http://www.genetichealthvic.net.au/pages/links.html

Extractions: Home Better Health Channel - http://www.betterhealth.vic.gov.au/ Department of Human Services - http://www.dhs.vic.gov.au/ GENZYME Therapeutics - http://www.genzyme.com.au/ Haemscreen - http://haemscreen.com/ Health On Line - http://www.health.abol.net.au/ Health Insurance Commission - http://www.hic.gov.au/ McMillan Shakespeare - http://www.mcms.com.au/ Medical Practitioners Board Of Victoria - http://www.mpbofv.org.au/ Monash Medical Centre - http://www.southernhealth.org.au/ Murdoch Childrens Research Institute - http://murdoch.rch.unimelb.edu.au/ OMIM: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM Possum - http://www.possum.net.au/ Royal Children's Hospital - http://www.rch.unimelb.edu.au/ Royal Women's Hospital - http://www.rch.unimelb.edu.au/index-ext.html Southern Health - http://www.southernhealth.org.au/ Specimen Collection - http://www.rch.unimelb.edu.au/lab services/specimen.collection.xls
CIN'2003. Suzanne Meleg-Smith. Enfermedad De Alport: Un Diagnóstico Difícil
Translate this page 15.- Mochizuki, T., et al., Identification of mutations in the A3(IV) and A4(IV)collagen genes in autosomal recessive alport syndrome. Nature genetics, 1994.
http://www.uninet.edu/cin2003/conf/smelegs/smelegs.html

Extractions: 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:
105 Document(s) Found In Genealogy
Causes of Hearing Loss and Hearing Loss in General alport syndrome (Source Boystown DHSOregon WWW Links and Resources The Oregon genetics Program WWW Links
http://msfindit.statelib.wa.gov/oregon/search.asp?nb=0&as=0&tid=214
Hum. Mol. Genet. -- Abstracts: Lemmink Et Al. 3 (8): 1269
unrelated patients with sporadic or nonX-linked alport syndrome were screened heterozygousand another homozygous (Mochizuki et al., Nature genetics, in press
http://hmg.oupjournals.org/cgi/content/abstract/3/8/1269

Extractions: Department of Pediatrics, University Hospital Nijmegen, The Netherlands. A group of 22 unrelated patients with sporadic or non-X-linked Alport syndrome were screened for mutations in the non-collagenous domain of the type IV collagen alpha 3 (COL4A3) chain gene. The five 3'-exons of this gene, located on chromosome 2qter, were tested by single strand conformation polymorphism analysis and direct sequencing. One patient was heterozygous and another homozygous (Mochizuki et al., Nature Genetics, in
Hum. Mol. Genet. -- Abstracts: Knebelmann Et Al. 4 (4): 675
Human Molecular genetics, Vol 4, 675679, Copyright © 1995 by Oxford University anAlu sequence in the COL4A3 mRNA causing autosomal recessive alport syndrome.
http://hmg.oupjournals.org/cgi/content/abstract/4/4/675

Extractions: INSERM U.423, Hopital Necker-Enfants Malades, Universite Rene Descartes Paris V, France. Alport syndrome is a mainly X-linked hereditary disease of basement membranes characterized by progressive renal failure, deafness, and ocular lesions. The alpha 3(IV) and alpha 4(IV) collagen genes have been recently shown to be involved in the less frequent autosomal recessive form. When screening lymphocyte COL4A3 mRNAs from Alport patients, we found a mutant whose transcripts were disrupted by a 74 bp insertion at the junction of exons IV or V and VI. The insertion derives from an antisense Alu element
Entrez PubMed
and that a patient with anterior lenticonus associated with alport syndrome hada Collagen Type IV/genetics*; Collagen Type IV/metabolism*; Collagen Type IV
http://www.biomedcentral.com/pubmed/12796257

Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
Informagene - Dizionario
Translate this page Bibliografia Tryggvason K. Molecular pathology and genetics of alport syndrome.Contributions to Nephrology 117, Karger, Basilea, 1996. Sessa A. et al.
http://www.telethon.it/informagene/dettaglio_malattia.asp?id=72
Dysmorphic Child Referral Guidelines
proteinuria and hematuria in alport syndrome, the need prolapse in Marfan syndrome,recurrent otitis PEDIATRIC DYSMORPHOLOGY/genetics SPECIALTY REFERRAL (In
http://www.mamc.amedd.army.mil/Referral/guidelines/dev_ped_dysmorphic.htm

Extractions: Attention Deficit Hyperactivity Disorder Cerebral Palsy Chromosomal Disorder Dysmorphic Child Malformation Syndrome Myelodysplasia Sensory Impairment, Profound Ventriculoperitoneal Shunts ... MAMC Intranet or WRMC Internet Referral Guidelines Guideline Updated: 24 February 2004 Specialty: Developmental Pediatrics Based upon the pregnancy history, family history, medical/surgical history, and physical examination, the diagnosis of a certain specific multiple malformation syndrome may become obvious. In many cases, however, it is difficult to definitively establish a recognizable syndrome for the child's physical and developmental findings.
Rural Nurse Organization Clinic Digital Library
genetics Resources See also General genetics Resources GeneClinics HomepageAlport syndrome Access document. Online Mendelian Inheritance
http://ruralnurseorganization-dl.slis.ua.edu/clinical/nephrology/glomerulonephri

Extractions: Clinical Resources by Topic: Nephrology Alport Syndrome Clinical Resources Pediatrics Atlases Pathology Genetics ... Miscellaneous Resources See also: Family Practice Handbook 4th Ed.-2001: Table of contents Medicine, Ob/Gyn, Psychiatry, and Surgery (eMedicine): Table of contents Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Pediatrics Resources See also General Pediatrics Resources Atlases Pathology Resources Internet Pathology Lab for Medical Education (FSU Coll of Med): Table of contents Renal Pathology Index: List of documents Glomerulonephritis: List of documents Hereditary Nephritis (Alport's Syndrome), Microscopic:
OUP: Genetics Of Renal Disease: Flinter
8 Frances Flinter alport syndrome; 9 Anand K SaggarMalik Stefan Somlo 13 PasqualeStrazzullo Pietro Vuotto genetics of stone forming diseases; 14 David
http://www.oup.co.uk/isbn/0-19-263146-2

Extractions: VIEW BASKET Quick Links About OUP Career Opportunities Contacts Need help? oup.com Search the Catalogue Site Index American National Biography Booksellers' Information Service Children's Fiction and Poetry Children's Reference Dictionaries Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks Humanities International Education Unit Journals Law Medicine Music Oxford English Dictionary Reference Rights and Permissions Science School Books Social Sciences World's Classics UK and Europe Book Catalogue Help with online ordering How to order Postage Returns policy ... Table of contents Edited by Frances Flinter , Clinical Geneticist, Guy's and St Thomas' NHS Trust and King's College London, UK, Eamonn R. Maher , Professor of Medical Genetics, University of Birmingham and Clinical Genetics Unit, Queen Elizabeth Medical Centre, Birmingham, UK, and Anand Saggar-Malik , Clinical Geneticist, St George's Hospital Medical School, London, UK
PUBLICATIONS 93
eds) MosbyYear Book, volume 221-14, 1993. Tryggvason K, Zhou J, Hostikka SL,Shows T. Molecular genetics of alport syndrome. Kidney Int 4338-44, 1993.
http://www.oulu.fi/faculties/resea/biocente/publct93.html

Extractions: Ala-Korpela M, Hiltunen Y, Jokisaari J, Eskelinen S, Kiviniitty K, Savolainen MJ, Kesäniemi YA. A comparative study of 1H NMR lineshape fitting analyses and chemical lipid analyses of the lipoproteins fractions and total human blood plasma. NMR in Biomedicine 6:225-233, 1993. Apter D, Butzov T, Laughlin G, Vihko R, Yen SSC. Hyperandrogenism during puberty and adolescence, and its relationship to reproductive function in the adult female. In: Reproductive Medicine (Serono Symposium Publications from Raven Press, Volume 93). Gaetano Frajese, Emil Steinberger and Luis J. Rodriguez-Rigau, eds. Raven Press, New York, N.Y. 1993, pp. 265-275, 1993 Autio-Harmainen H, Karttunen T, Hurskainen T, Höyhtyä M, Kauppila A, Tryggvason K. Expression of 72 kDa type IV collagenase in benign and malignant ovarian tumors. Lab Invest 69:312-321, 1993. Frick MH, Huttunen J, Huvinen M, Katila M, Kesäniemi YA et al. Suomen Sisätautilääkärien Yhdistyksen, Suomen Kardiologisen seuran, Suomen Sydäntautiliiton, Kunnallislääkärit-yhdistyksen ja Suomen teol-lisuus-lääkäriyhdistyksen työryhmän suositus: Aikuisten hyperlolesterolemian ja muiden hypolepidemi-oiden diagnostiikka ja hoito 1992. Duodecim:109:205-225, 1993. Hakalahti L, Vihko P, Henttu P, Autio-Harmainen H, Vihko R. Evaluation of PAP and PSA gene expression in prostatic hyperplasia and prostatic carcinoma using Northern blot analyses, in situ hybridization and immunohistochemical stainings with monoclonal and bispecific antibodies. Int J Cancer 55:59-597, 1993

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