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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

Gallaudet University's Genetics Program
Bell Association for the Deaf and Hard of Hearing genetics and Deafness Brachiooto-renal(BOR) syndrome Boys Town National Research Hospital BOR syndrome.
http://depts.gallaudet.edu/genetics/resources1.htm
Program In Genetics And Development: Barbara Pober
Clinical genetics; Dysmorphology; Williams syndrome. I am a Dysmorphologist Alportsyndrome, mental retardation, midface hypoplasia, and elliptocytosis a new X
http://info.med.yale.edu/bbs/gendev/faculty/pober.html

Extractions: I am a Dysmorphologist/Clinical Geneticist involved in diagnosis and counselling for birth defects and inherited disorders. My major research focuses on a rare genetic microdeletion disorder, Williams syndrome. From my involvement in the diagnosis and management of large numbers of patients with Williams syndrome, several clinical studies on the natural history of this disorder have emerged. Clinical information and patient samples are being provided in a collaborative fashion to assist in the delineation of the Williams syndrome critical region. Current information suggests that the Williams syndrome deletion is >100 kb in size, involving loss of the gene, elastin, and additional flanking genes as well. Thus, Williams syndrome is likely to be another example of a contiguous gene deletion syndrome. Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HHQ, Costa T, Pober BR, Lew L, Brinkman J, Rommens J, Koop B, and Tsui LC.
Adenovirus-mediated Transfer Of Type IV Collagen 5 Chain CDNA Into Swine Kidney
Gene therapy of alport syndrome (hereditary nephritis) aims at the transfer of acorrected type IV collagen chain gene into renal glomerular cells responsible
http://www.nature.com/cgi-taf/DynaPage.taf?file=/gt/journal/v8/n11/abs/3301342a.
Centre For Human Genetics Seminars - November 1997
GOS Hospital Lecture Theatre. Tuesday 25th November 97. 12.30 Mapping Xq22 andAlport syndrome. Wayne Evans, Division of Medical and Molecular genetics, UMDS.
http://www.gene.ucl.ac.uk/chg/semsnov.htm

Extractions: November 1997 Tuesday 4th November 97 12.30 Genetics of colorectal cancer Sir Walter Bodmer, Institute for Molecular Medicine, John Radcliffe Hospital, Oxford Gowland Hopkins Lecture Theatre, Medical School Basement (Host: Ellen Soloman) 16.30 A new method to isolate novel genes for the mouse embryo Dr Dianne Gerrelli, Neural Development Unit, ICH Seminar Room, Level 7, Cardiac Wing, ICH 17.00 Craniosynostosis: Towards a Molecular pathology... Mr Jonathan Britto, Developmental Biology Unit, ICH Seminar Room, Level 7, Cardiac Wing, ICH Friday 7th November 97 13.00 What molecular evolution and genetic disease can tell us about protein targeting Dr Chris Danpure, LMCB, Dept of Biology, UCL Lankester Theatre, Medawar Building, UCL Monday 10th November 97 13.00 Rising trends in atopy: why?
Genes At Work - Topics In Genetics
Back. The genetics Of Deafness by Beth A. Pletcher, MD, November 1999. alport syndromeis an autosomal dominant or Xlinked dominant condition associated with
http://www.umdnj.edu/genesatwork/topics/pediatrics/03_pediatrics.htm

Extractions: by Beth A. Pletcher, MD, November 1999 It may be hard to believe, but almost 7% of the population of the United States is deaf or hearing impaired. This amounts to about 20 million people across the country. You might say that this makes sense when one considers the ever increasing population of senior citizens, but you may be surprised to learn that 50% of severe to profound hearing impairment is genetically determined. Other Mendelian disorders that have hearing loss as a frequent component include: In addition to these conditions, there are many more multiple anomaly, biochemical and cytogenetic disorders that have hearing loss as a common finding. For a child with congenital hearing loss a number of simple screening tools can be employed to rule out some of these conditions that have additional medical implications. A reasonable work-up for an infant or child with significant hearing loss without obvious cause would include: Genes at Work Home UMDNJ Home Top of page
Bjrm2no3
Frances A Flinter MD FRCP FRCPCH Senior Lecturer and Honorary Consultant in ClinicalGenetics, Guy's Hospital, London alport's syndrome (AS) is an inherited
http://www.hayward.co.uk/hmc_index/bjr/bjrm2no3.htm

Extractions: back to article index Volume 2, Number 3, Autumn 1997 Opting for pre-emptive transplantation Symbolic play in post-transplant recovery Monitoring renal patients' quality of life What I tell my patients about Alport's syndrome ... Developing a protocol for clinical practice Judith Argles MA CQSW Dip Soc Studies Paediatric Renal Social Worker Johanne Anderson MSc BSc DipHE RN(Child) Staff Nurse, Children and Young Person's Kidney Unit, Nottingham City Hospital NHS Trust Pre-emptive transplantation (PET) is a treatment option offered by 70% of UK renal units to children with chronic renal failure who are approaching the need for renal replacement therapy. Dialysis is avoided by planning intervention before the child develops symptoms. Pre-emptive transplantation is offered by 70% of UK renal units and should be seriously considered for children approaching end-stage renal failure. PET has many social, psychological and physical benefits, including avoiding the complications of bone disease, nutritional problems and anaemia that are associated with dialysis. A team strategy is essential when preparing a family for PET - the family should ideally have regular discussions with the nephrologist, dietitian, social worker and community nurse.
Common Ear, Nose And Throat Problems
syndrome, advancement in the fields of genetics and molecular otosclerosis; Alportsyndrome; autosomal dominant delayed (late) progressive sensorineural hearing
http://www.pediatric-ent.com/learning/problems/hearing_loss.htm
UNSW Embryology- Abnormal Development
Journal Review Article. Hearing. 1. Steel, KP and Brown, SDM Trends in Genetics10 428435 (1994). Hearing. Late Onset. X-Linked alport syndrome. COL4A5. Collagen.
http://anatomy.med.unsw.edu.au/cbl/embryo/Sections/Teratol.htm

Extractions: This section under construction This area of research also called Teratology . [The is a Journal of Teratology] ANAT3311 Class Notes Developmental Anomalies Genetic Disorder Journal Review Article Hearing 1. Steel, K.P. and Brown, S.D.M. Trends in Genetics Hearing Hearing is a complex physical and neurological process. Developmental loss of hearing can result from many different causes including genetic and viral infection (rubella weeks 7-8). These generate either structural or neurological abnormalities or loss. Auricular abnormalities may also be used as an indicator of abnormal organ development, without necessarily effecting hearing.
Physiology Department Faculty And Their Research
pathology. Tryggvason K (ed) Molecular Pathology and genetics of AlportSyndrome, Contrib Nephrol. Basel, Karger, 117128, 1996.
http://medlib.med.utah.edu/physio/faculty/barker.html

Extractions: email: david.f.barker@m.cc.utah.edu Education Research Interests Publications 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 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. (Go to the complete list in PDF Format.)
Medical Sites
to call our Center for information. Department of Medical Genetics1800-624-1865 or send E-Mail to medgen@jaguar1.usouthal.edu.
http://www.southalabama.edu/genetics/medsites.htm

Extractions: A Few Medical Internet Sites.... We encourage health care providers, patients and concerned families to call our Center for information. Department of Medical Genetics 1-800-624-1865 or send E-Mail to medgen@jaguar1.usouthal.edu American College of Medical Genetics: http://www.faseb.org/genetics/acmg/acmgmenu.htm
Genetics
HSci 302A Pathophysiolgy. genetics. Instructions EVERY studentmust participate in EVERY HyperNews discussion group. Be sure to
http://hyper.vcsun.org/HyperNews/mhighfield/get/hs302A/genes.html

Extractions: HSci 302A - Pathophysiolgy GENETICS I nstructions: EVERY student must participate in EVERY HyperNews discussion group. Be sure to: 1. Include a title of your message 2. Include your email address. 3. Explain your answers from the text, notes, or other source, and CITE YOUR SOURCE. 4. Don't repeat what others have said. It makes for boring reading and suggests that you have not bothered to read others' comments. If you want to add more detail to their message, that's fine. For review on how to use HyperNews please click here.a Messages Display All Outline All #2Why are X-linked inheritance patterns seen more commonly than Y-linked ones? , 1999, Feb 11 #3 What are the limitations in determining inheritance in multifactorial or polygenic disorders?
KT/DA Other Sites Of Interest
genetics of Kidneys in Diabetics (GoKinD) Study is sponsored by the The AlportSyndrome Hereditary Nephritis Forum is for patients, family, nephrology
http://users.rcn.com/ktda1/sites.shtml
Disorders
BranchioOto-Renal (BOR) syndrome Branchiootorenal Dysplasia Branchio-Oto-Renal(BOR) syndrome Branchiootorenal syndrome Deafness with Ear Pits Genomewide
http://www.listen-up.org/med/med2.htm
VERZEICHNIS DER WISSENSCHAFTLICHEN ARBEITEN
http://www.ukl.uni-freiburg.de/med/med4/neumann/literaturde.html

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