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WWW Home Page | E-mail: krawczak@cardiff.ac.uk
The Cardiff-based Human Gene Mutation Database is now available.
This facility actually comprises two databases, namely the Point Mutation Database
which contains in excess of 5,300 different single base-pair substitutions (within gene
coding regions) causing human genetic disease, and the Micro-Deletion Database,
comprising more than 1,000 different gene deletions of less than 20 base-pairs. Somatic
mutations, mitochondrial DNA mutations and mutations within promoters, splice sites and
untranslated regions are not included. The two databases are searchable both by the
disease and by HUGO-approved gene symbol. Hypertext links are provided to Online
Mendelian Inheritance In Man (OMIM), the Genome Database (GDB), and to those
locus-specific mutation databases that are currently available on the WWW.
WWW Home Page | E-mail: paolo@ist.unige.it
The WWW server of the Advanced Biotechnology Center of Genoa has recently been updated.
It now includes the European mirror of the Biotechnology section of the Virtual Library
and BioTec On-Line, the hypertext version of BioTec, the Italian journal on Biotechnology.
The latter is mostly in Italian, but an English version of papers' abstracts is available
as well. You will also find a preliminary presentation of the European Association for
Higher Education in Biotechnology and a short introduction to researches and services that
are carried out at the center.
WWW Home Page | E-mail:
GAMBACORTI@ICIL64.CILEA.IT
A review article entitled "Molecular Diagnosis in Hereditary Cancers", by Dr. Paolo Radice (National
Cancer Institute - Milan) is now available inside HMGN (WWW) at this address:
HMGN subscribers are encouraged to look at this first review published inside HMGN
which, aside from its high scientific content, features interesting technological
advancements including:
- medline interactive references;
- possibility to submit comments to the article, which after peer-review will be attached
to the original document; please mail your comments to HUM-MOLGEN.
WWW Home Page | E-mail:
white@kermit.oncol.chop.edu
Announcing the opening of a human chromosome 1 World Wide Web site. This resource is
available on-line at:
http://linkage.cpmc.columbia.edu/chr1/The
WWW site contains pertinent information regarding cytogenetic, genetic, physical, and
transcript mapping exclusively of or including the largest human chromosome. Current
resources include:
-Repository of meeting information and report of the September 1995 chromosome 1
workshop
-Directory of links to available chromosome 1-specific mapping information
-On-line forum for discussion of chromosome 1 mapping and sequencing issues
This resource is sponsored by a collaboration between the Statistical Genetics Group at
Columbia University and the Division of Oncology at the Children's Hospital of
Philadelphia, with guidance from much of thechromosome 1 mapping community. For further
information, please contact Pete White at white@kermit.oncol.chop.edu
or Tara Matise at tara.matise@columbia.edu.
Genline -- Demonstration Page
Roberta Pagon, M.D., Editor-in-Chief, Dept of Pediatrics, University of
Washington. Genline is proposed as an authoritative, expert-authored electronic
publication with clinically relevant, concise, integrated and up-to-date information to
assist clinicians in applying new developments in genetic testing to the diagnosis,
management and counseling of individuals and families with inherited disorders. Entries
are expert-authored and peer-reviewed. They will be updated regularly or as new
developments occur. This prototype includes sample disease profiles. Further development
of Genline is pending funding.
The New England Journal of Medicine On-line published by the
Massachusetts Medical Society includes the complete text of many features of the print
Journal and partial text of others.
Search in the biology Web servers
This server searches in all the pages referenced by the Pasteur Institute Web server in its
biology "pointers" pages, "Molecular
Biology on the Web". (Actually, we index the pages we reference and the
pages below - two levels. This means we index pages that you can reach with at most two
hyperlinks activation. This can bring back pages without any connection to the biology.)
You may access help
for formulating queries.
Homepage of FEBS
Since early 1996 it is possible to obtain information on the
activities of the Federation of European Biochemical Societies via the World Wide Web. The
FEBS homepage has the following URL:
Histocompatibility and Immunogenetics (Archives)
This is an on-line journal that will receive, store and disseminate, formal short
communications in the fields of Histocompatibility and Immunogenetics. Papers will be sent
by e-mail and reviewed online for publication within 10 days of receipt. Published papers
will be stored permanently and will be available for downloading via FTP and through the
ASHI Gopher. In the future, subscribers to the Archives will be able to make comments and
these will be attached to the paper. The number of comments will be an indicator of the
interest suscitated by the report.
The Archives are presently in the development stage. In order to evaluate this proposal
we may post some papers as a test of the procedures involved. Your comments are solicited.
TRENDS IN HUMAN GENETICS
Vital Data by Tim Beardsley, staff writer / Scientific American.
WWW Home Page | E-mail:
Jean-Jacques.Cassiman@med.kuleuven.ac.be
The European Society of Human Genetics is pleased to announce the opening of its
website (http://infobiogen.fr/agora/eshg).
WWW Home Page | E-mail:
nomiyama@gpo.kumamoto-u.ac.jp
Cytokine Family cDNA
Database at Kumamoto University, Japan.
The Cytokine Family cDNA Database (dbCFC) is a collection of EST (Expressed
Sequence Tag) records of cytokines deposited in the NCBI GenBank. It provides information
about the identification of EST records to cytokine members and related data contained in
other databases including GenBank, dbEST, GDB and OMIM.
The Hybridoma Data Bank
is now available for searching via the web. If you are searching for a mab against a
specific antigen, this resource is designed just for this task. Distributor information is
also included to help locate and obtain a mab or cell line.
The information contained in this database is compiled with
information collected by the
Cystic Fibrosis Genetic Analysis Consortium.
Use of information in this database is subject to the guidelines of the CF Genetic
Analysis Consortium.
For further information, please contact:
Lap-Chee Tsui
Department of Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto,
Ontario M5G 1X8, CANADA. Telephone: +1 (416) 813-6015; Fax: +1 (416) 813-4931; E-mail:
cfdata@sickkids.on.ca
THE GENETIC DISEASE MAILING LIST
This list is a means of networking and communication for individuals concerned with the
various genetically-transmitted diseases affecting Jewish populations. Everyone is invited
to subscribe, because diseases common among Jewish people may affect individuals from any
cultural or ethnic group.
Anonymous subscriptions are not permitted. A verifiable personal name must be
provided to remain a subscriber to this list. However, the subscriber list is not
available publicly.
The following diseases are thought to occur at an increased frequency, although not
necessarily exclusively, among Jewish populations:
Tay-Sachs Disease,
Gaucher Disease , Essential
Pentosuria, Familial Dysautonomia, Factor XI Deficiency, Canavan Disease, Torsion Dystonia
,Abetalipoproteinemia, Bloom's Syndrome, Niemann-Pick (A+B) Disease, Cohen's Syndrome, Cystic Fibrosis, B-thalassemia,
Bronchiectasis, Mucolipidosis IV
Press reports have suggested that many breast and ovarian cancers have a genetic link
within the Ashkenazi Jewish population. This summary of recent findings provides a
detailed discussion of the issue.
To subscribe, go to the subscription
form
A new web site "Biology of the Mammary Gland Database" was established.
This Web site serves as a forum to integrate various aspects of Mammary Gland Biology, to
promote collaborations and the exchange of ideas, knowledge and resources. It was
established in October of 1995 by the Section of Developmental Biology at the National
Institutes of Diabetes, Digestive and Kidney Diseases within the National Institutes of
Health,Bethesda, Maryland, USA.
What's Here:
Mammary Gland Database
Bulletin Board
Development (includes transgenic and null mice with a mammary phenotype)
mini reviews
Genetics
Gene Regulation
Biotechnology
Milk
Tools (features technologies and reagents)
Research Groups
Literature
Art and History
Related Web sites
Note
This Web site contains information not yet published in Journals or books. Our philosophy
regarding data submission and distribution is outlined in the Mammary Gland Information
Core (Magic) page
WWW Home Page | E-mail:
odonnell@sasa.gov.uk
The home page of the Association for Glycogen Storage Disease (UK) contains information
about the different types of GSD, as well as information about the AGSD's activities -
conferences, publications research targets etc. Although the information is intended to be
understandable by affected families, it is hoped that professionals will also find it
useful.
Feedback and suggestions for more material are welcome.
WWW Home Page | E-mail:
rwinter@ich.bpmf.ac.uk
Mouse/Human Dysmorphology Database
This application consists of three separate databases of human and mouse malformation
syndromes together with a database of
mouse/human syntenic regions. The mouse and human malformation databases are linked
together through the chromosome
synteny database. The purpose of the system is to allow retrieval of syndromes according
to detailed phenotypic descriptions
and to be able to carry out homology searches for the purpose of gene mapping. Thus the
database can be used to search for
human or mouse malformation syndromes in different ways:-
- By specifying specific malformations or clinical features, or chromosome locations.
- By Homology.
- By asking for human syndromes located at a chromosome region syntenic with a specific
mouse chromosome region
(and vice versa from human to mouse).
The databases in the system are derived from different sources and authors. These are:-
a) The London Dysmorphology Database (LDDB).
This is a database of over 2000 non-chromosomal malformation syndromes. Each syndrome is
classified according to a master
list of phenotypic features. The full database is microcomputer based and is published by
Oxford University Press (Winter RM,
Baraitser M (1993). The London Dysmorphology Database: Oxford University Press, Oxford.).
It contains comprehensive
data for each syndrome including literature references, a detailed abstract and clinical
photographs stored on CDROM. In the
present application a subset of around 50 per cent of the syndromes has been chosen. This
is because many of the entries on
the full database refer to single case reports or families which are important to register
for clinical diagnostic purposes but which
are not yet useful for gene mapping purposes.
The syndromes are classified according to a master list of clinical features. This list is
a subset of the full LDDB clinical feature
list containing the major malformations or physical abnormalities. The clinical features
of each syndrome are given together with
hypertext links to OMIM -- Online Mendelian Inheritance in Man (which is integrated with
The Genome Data Base. Where a
syndrome does not have an OMIM entry, a key reference is provided (currently not
available).
b) Mouse malformation database.
This is an updated database of mouse malformation syndromes developed with the same system
for phenotypic description
used in LDDB (Winter RM. A mouse malformation mutant supplement to the London
Dysmorphology Database. Am J Med
Genet. 30:819-812;1988). Hypertext links to mouse databases at other centres are provided,
more specifically:
The Mouse Genome Database (MGD), which incorporates:
The Encyclopedia of the Mouse Genome
The Mouse Locus Catalog
c) Human Cytogenetic Aberrations.
This a database of the clinical effects of human chromosomal aberrations (Schinzel A.
Cytogenetics Database: Oxford Medical
Databases: 1994). The data used in the current application is a subset containing the
clinical features of all aberrations that have
been reported more than once.
d) Mouse/Human chromosome homology.
This is derived from a database kept by Dr Tony Searle (Searle AG, Edwards JH, Hall JG.
Mouse homologues of human
hereditary disease. J Med Genet 31:1-19, 1994).
WWW Home Page | E-mail:
rebhan@uni-hohenheim.de
REBPAGE - the brain in health and disease
This site offers a news section with selected articles about brain disorders (treatment,
diagnosis, basic research), an extensive web guide that links you directly to databases,
discussions, meeting informations, etc., and many other services that may be of interest
for people searching information about any brain disorder.
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| Martin A. Kennedy |
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Cytogenetic and Molecular Oncology Unit
Christchurch School of Medicine
New Zealand |
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this useful, up to date resource contains information about newsgroups,
mailing lists, database browsers, major sequence databases, genes, markers and disease
databases, other useful databases, human and mouse genome project resources, biological
reagent sources and general information sources.
National Ataxia Foundation now ONLINE
The National Ataxia Foundation (NAF) was founded in 1957 in an organized effort to
combat all hereditary ataxias. Hereditary ataxia is not a single disease, but a group of
disorders which have in common that they cause ataxia (lack of coordination) and that they
run in families. Terms used to describe the hereditary ataxias include but are not limited
to: olivopontocerebellar atrophy (OPCA), spinocerebellar degeneration (SCA), Marie's
ataxia, "pure" cerebellar ataxia and more. Ataxia can be either dominantly
inherited as those listed above or recessively inherited like Friedreich's ataxia. NAF has
three primary objectives and areas of service: Education, Service and Research. Services
include patient education materials, Pen-Pal program, chapters and support groups,
informational meetings and quarterly newsletter, Generations. Most single copies of
publications are free as is a list of "What's Available" through NAF. Call or
write for more information.
National Ataxia Foundation
15500 Wayzata Blvd., # 750
Wayzata, MN 55391
Phone: (612) 473-7666
Fax: (612) 473-9289 FAX
Email: naf@mr.net
Home Page: http://www.ataxia.org
The ImMunoGeneTics database
is an integrated specialised database containing nucleotide sequence information of
genes important in the function of the immune system. It collects and annotates sequences
belonging to the immunoglobulin superfamily which are involved in immune recognition,
these are the B cell antigen receptor (Immunoglobulin or Ig), the T cell antigen receptor
(TCR) (LIGM-database) and the class I and class II molecules of the Human Leucocyte
Antigens (HLA) system (HLA-database).
Release 2 (December 1995) contains 3149 fully annotated sequence entries.
Blood Cells, Molecules, & Diseases
Blood Cells Foundation, publishes articles in the broad area of hematology, including
areas such as genetics, pathophysiology, immunology, clinical medicine, and morphology.
This journal is the successor of Blood Cells, a journal that has been in existence for
over 20 years. It is indexed in MedLine, Reference Update, Current Contents and most of
the other current awareness services. Articles that are accepted for publication are
distributed in final form over the internet, and are available free of charge from our web
site.
metab-l mailing list
a meeting-place for clinicians with care of patients with inborn errors of metabolism,
for biochemists and molecular biologists (136 subscribers / Feb 2nd 1996).
WWW Home Page | E-mail:
biowrite@webcom.com
Kendrick & Associates, Inc. has begun offering a new technical writing service for
the biotechnology, pharmaceutical, and chemical industries. This service is being marketed
under the service mark BioWrite. The president has a master of science degree in
microbiology and years of experience both at the bench and at the word processor. We now
have several consultants devoted only to this task. For more information, visit our site
at: http://www.webcom.com/kendrick/biowrite.html or e-mail biowrite@webcom.com
Gene localizations for non-syndromic hearing loss.
WWW Home Page E-mail:
lhchalif@dapsas1.weizmann.ac.il
![[bioinfo_logo]](http://bioinformatics.weizmann.ac.il/graphics/bioinfo_logo.gif)
The Weizmann Institute of Science Bioinformatics Unit Web site has been reconstructed,
and it now contains:
CSA's Hot Topics Series features brief reviews of current
literature on subjects of interest to the research community and to the public at large.
Leptin Receptor (OB-R)
cloned.
GenBank has released the sequence records for mouse
and human
leptin receptor mRNA submitted by Millennium Pharmaceuticals, Inc. of Cambridge,
MA, and published in the December 29
issue of Cell.
For your convenience, the results of two homology searches are provided. The first is a
BLASTP
search of the SwissProt database using the human leptin receptor protein
sequence as a query.
The second search is a BLASTN
search against the database of expressed sequence tags dbEST), using the human leptin
receptor mRNA sequence as a query.
Source: NCBI Announcement
12/30/95
The following American Genetics Societies are online:
The American Society of
Human Genetics
The American Society of Human Genetics (ASHG), founded in 1948, is the primary
professional membership organization for human geneticists in North America.
The
Genetics Society of America
Founded in 1931, the Genetics Society of America offers membership to scientists and
academicians interested in the field of genetics studies.
The
American College of Medical Genetics
The American College of Medical Genetics is committed to making genetic services
available to the American Public without regard to age, race, national origin, gender,
sexual orientation, disbility or ability to pay.
The
American Board of Medical Genetics
The American Board of Medical Genetics certifies individuals and accredits training
programs in the field of human genetics.
The
American Board of Genetic Counseling
The American Board of Genetic Counseling prepares and administers examinations to
certify individuals who provide services in the medical genetics specialty of genetic
counseling and accredits training programs in the field of genetic counseling.
WWW Home Page | E-mail:
hugh.griffin@bbsrc.ac.uk
New WWW sites of interest to molecular biologists, geneticists, biotechnologists,
microbiologists, clinicians, biochemists, and other life scientists.
- Internet for the Molecular
Biologist: A good introduction to the internet for the molecular biologist.
- Molecular Biology Jump
Station: A comprehensive collection of USEFUL links for the molecular biologist.
- Books for Molecular Biology. Includes
full chapter abstracts, book reviews, and ordering information. Check out the new book
*Internet for the Molecular Biologist.*
- Protocols on the WWW.
An extensive directory of the sites providing protocols for molecular biology,
microbiology, genetics, biochemistry, and cell biology.
- Microbiology Jump Station:
A site for microbiology containing links to microbiology institutes, organizations,
journals, culture collections, newsgroups, protocols, information, and directories.
- Genetics Jump Station:
A large collection of links for the geneticist.
WWW Home Page |
E-mail: hugh.griffin@bbsrc.ac.uk
Horizon Scientific Press
publishes quality books in the areas of molecular biology and microbiology for the
international scientific community. Our major new series Current Innovations in
Molecular Biology is now available. This series will keep you up-to-date with all the
current technology in molecular biology. Each volume is packed with protocols and
information on the most widely used techniques and applications. Our home page provides full chapter abstracts,
book reviews, and ordering information as well as a useful collection of links to other
sites of interest to the molecular biologist.
Check out or new publication Internet
for the Molecular Biologist.
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