WorldCat Identities

De la Chapelle, Albert

Overview
Works: 32 works in 58 publications in 6 languages and 287 library holdings
Genres: Conference papers and proceedings 
Roles: Author, Other, Editor, Honoree, Opponent
Publication Timeline
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Most widely held works by Albert De la Chapelle
Human gene mapping 8 by International Workshop on Human Gene Mapping( Book )

3 editions published in 1985 in English and held by 112 WorldCat member libraries worldwide

Córnea plana congénita. Revisión bibliográfica. Revista Cubana de Genética Humana Volumen 2, Número 2. 2000 by Aldo Sigler Villanueva( )

2 editions published in 2000 in Spanish and held by 52 WorldCat member libraries worldwide

Chromosomes today : proceedings of the Sixth International Chromosome Conference held in Helsinki, Finland, August 29-31, 1977 by Helsinki Chromosome Conference( Book )

8 editions published in 1977 in English and held by 49 WorldCat member libraries worldwide

Proceedings of the Sixth International Chromosome Conference : held in Helsinki, Finnland, August 29-31, 1977 by International Chromosome Conference( Book )

7 editions published in 1977 in English and held by 13 WorldCat member libraries worldwide

Cytogenetical and clinical observations in female gonadal dysgenesis by Albert De la Chapelle( Book )

1 edition published in 1962 in English and held by 10 WorldCat member libraries worldwide

Cytogenetical and clinical observations in female gonadal dysgenesis by Albert De la Chapelle( Book )

2 editions published in 1962 in Swedish and English and held by 9 WorldCat member libraries worldwide

Bidrag till kännedomen om de s.k. primära, akuta streptokockperitoniterna särskildt i anslutning till Angina tonsillaris by Albert De la Chapelle( Book )

4 editions published in 1907 in Swedish and held by 7 WorldCat member libraries worldwide

Human gene mapping 8 : Helsinki Conference (1985) ; Eighth International Workshop on Human Gene Mapping ; at the University of Helsinki, Finland August 4-10, 1985 by International Workshop on Human Gene Mapping( Book )

4 editions published in 1985 in English and French and held by 5 WorldCat member libraries worldwide

Human gene mapping 8 : Helsinki Conference (1985), 8. Intern. Workshop on Human Gene Mapping, at the Univ. of Helsinki, Finland, Aug. 4-10, 1985( Book )

1 edition published in 1985 in English and held by 3 WorldCat member libraries worldwide

Human gene mapping, 9 : Paris Conference (1987), Ninth International Workshop on Human Gene Mapping at the University of Paris, Faculté de Médecine, France, September 6-11, 1987 by International Workshop on Human Gene Mapping( Book )

1 edition published in 1987 in English and held by 3 WorldCat member libraries worldwide

Herrgårdar i Finland by Gabriel Nikander( Book )

in Swedish and held by 2 WorldCat member libraries worldwide

Den lilla boken om Kalby by Albert De la Chapelle( Book )

2 editions published in 1991 in Swedish and held by 2 WorldCat member libraries worldwide

Proceedings of the 6 Intern. Chromosome Conference held in Helsinki ; August 29.-31.1977 by Albert De la Chapelle( Book )

1 edition published in 1977 in English and held by 2 WorldCat member libraries worldwide

[Sans titre]( Book )

1 edition published in 1939 in Undetermined and held by 1 WorldCat member library worldwide

Eighth International Human Gene Mapping Workshop, HGM 8 : Helsinki, Finland, August 4-10, 1985 ; program and abstracts by International Human Gene Mapping Workshop( Book )

1 edition published in 1985 in English and held by 1 WorldCat member library worldwide

Characterization and analysis of genes involved in Colorectal and Endometrial Cancer by Robert B Chadwick( )

1 edition published in 2000 in English and held by 1 WorldCat member library worldwide

Loss of cellular functions by stepwise mutation of critical regulatory genes can lead to the clonal evolution of cells that metastasize and become pathogenic to their host. These mutations arise by both hereditary and somatic mechanisms. Hereditary cancers account for a minority of cancers but the elucidation of the causative hereditary genes gives insight into how both sporadic and hereditary cancer arises. Colorectal cancer (CRC) is the second deadliest cancer after lung cancer. Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary CRC and is caused by mutation in the mismatch repair genes MSH2, MLH1, MSH6 and PMS2. Described herein are direct sequencing methods of mutation detection and an assay for HNPCC carrier determination. Also described is the mapping of a candidate tumor suppressor gene in colorectal cancer to 32.2 cM from chromosome 1p-tel. Mutational analysis of the RIZ gene located in this region found frequent truncating frameshift mutations and loss of both RIZ mRNA and protein expression in colorectal tumors. Germline mutations in mismatch repair genes have been implicated in endometrial cancer. Another study was undertaken to determine the mutational frequency of the mismatch repair genes in sporadic endometrial cancer. One pathogenic germline mutation was found in the MLH1 gene, a rate of at least 1.4% (1/74). This rate is comparable to the hereditary involvement of the mismatch repair genes in colorectal cancer. A hypermutable (A)7 region was identified in MSH2. Additionally, a nonexpressed pseudogene was found that is highly homologous to the PMS2 gene. The pseudogene is polymorphic for two alterations in an (A)8 repeat region. Due to the high homology to PMS2, these polymorphisms could be mistaken for mutation in the PMS2 gene and erroneously thought to be a cause of HNPCC. The I1307K polymorphism in the APC gene has been reported to be a low penetrant mutation in individuals of Ashkenazi Jewish descent. Another study was undertaken to determine its frequency in other ethnic backgrounds. No carriers were found in individuals of Finnish, Italian and Hawaiian-Japanese descent, indicating that the I1307K polymorphism. is unique to the Ashkenazi Jewish population
Wilhelm Pipping. : (Med porträtt.) by Albert De la Chapelle( Book )

1 edition published in 1926 in Swedish and held by 1 WorldCat member library worldwide

Implication des récepteurs à dépendance de la nétrine-1 dans les cancers colorectaux by Marie-May Coissieux( )

1 edition published in 2012 in French and held by 1 WorldCat member library worldwide

Les récepteurs à dépendance ont la particularité d'induire deux signalisations différentes en fonction de la disponibilité de leur ligand. En présence de leur ligand, ils initient une signalisation positive favorisant notamment la survie cellulaire tandis qu'en leur absence, ils induisent la mort de la cellule par apoptose. Ils créent donc un état de dépendance de la cellule vis-à-vis du ligand pour survivre. Cette dualité fonctionnelle leur confère un rôle central dans le maintien de l'homéostasie tissulaire chez l'adulte et particulièrement dans l'intestin et le colon. En ce sens, l'apoptose induite par les récepteurs à dépendance serait un mécanisme de sauvegarde limitant l'échappement tumoral en permettant l'élimination des cellules proliférant ou migrant dans un environnement dépourvu d'une quantité suffisante de ligand. Un avantage sélectif potentiel pour une cellule tumorale serait donc de perdre cette induction de la mort cellulaire, soit via l'altération des récepteurs soit via un gain excessif d'expression du ligand. Ainsi, les travaux présentés montrent qu'un gain d'expression du ligand netrine-1 par la cellule tumorale elle-même caractérisée une fraction des tumeurs colorectales dérivées de pathologies inflammatoires chroniques et que la perte de l'expression des récepteurs à dépendance fixant la nétrine- 1 est observée dans le reste des cancers colorectaux. En particulier, nous avons montré que l'expression du gène qui code pour le récepteur de la netrin-1 UNC5C est altérée par méthylation dans 70% des cancers colorectaux, et que ce gène comporte également des mutations ponctuelles germinales dans des formes familiales de cancer colorectal, chez lesquels aucune autre mutation n'avait été décrite. Nous avons ainsi montré que les récepteurs à dépendance agissent comme des suppresseurs de tumeur conditionnels à l'absence de nétrine-1 et que l'altération de leur signalisation apoptotique constitue un avantage sélectif qui favorise la progression des cancers colorectaux
Tarina erinäisistä merkillisyydeistä, Lohjan Pitäjäässä ja erinomattain Äijänmäestä Koskisten Kylässä by Albrecht Fredrik Richard de la Chapelle( Book )

1 edition published in 2005 in Finnish and held by 1 WorldCat member library worldwide

 
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Alternative Names
Albert de la Chapelle den yngre

Albert de la Chapelle Finnish geneticist

Albert de la Chapelle Finnish professor emeritus of medical genetics (University of Helsinki), research professor and academian of science (Academy of Finland)

Albert de la Chapelle Fins klinische genetica

Chapelle Albert De La

Chapelle, Albert de la 1933-

De la Chapelle, Albert 1933-

DeLaChapelle, Albert 1933-

La Chapelle Albert De

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