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Literature DB >> 3070042

Human chromosome 8.

Abstract

The role of human chromosome 8 in genetic disease together with the current status of the genetic linkage map for this chromosome is reviewed. Both hereditary genetic disease attributed to mutant alleles at gene loci on chromosome 8 and neoplastic disease owing to somatic mutation, particularly chromosomal translocations, are discussed.

Entities: Disease Species

Mesh：

Year: 1988 PMID： 3070042 PMCID： PMC1051574 DOI： 10.1136/jmg.25.11.721

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

148 in total

1. Chromosomal locations of human tissue plasminogen activator and urokinase genes.

Authors: B Rajput; S F Degen; E Reich; E K Waller; J Axelrod; R L Eddy; T B Shows
Journal: Science Date: 1985-11-08 Impact factor: 47.728

2. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

Authors: W S Sly; M P Whyte; V Sundaram; R E Tashian; D Hewett-Emmett; P Guibaud; M Vainsel; H J Baluarte; A Gruskin; M Al-Mosawi
Journal: N Engl J Med Date: 1985-07-18 Impact factor: 91.245

3. Alternative involvement of two cytogenetically distinguishable breakpoints on chromosome 8 in Burkitt's lymphoma associated translocations.

Authors: G Manolov; Y Manolova; G Klein; G Lenoir; A Levan
Journal: Cancer Genet Cytogenet Date: 1986-02-01

4. Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization.

Authors: V E Avvedimento; R Di Lauro; A Monticelli; F Bernardi; P Patracchini; E Calzolari; G Martini; S Varrone
Journal: Hum Genet Date: 1985 Impact factor: 4.132

5. Familial multiple exostoses--no chromosome 8 deletion observed.

Authors: J G Hall; R D Wilson; D Kalousek; R Beauchamp
Journal: Am J Med Genet Date: 1985-11

6. Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1).

Authors: F Shabtai; U Sandowski; R Nissimov; D Klar; I Halbrecht
Journal: Clin Genet Date: 1985-06 Impact factor: 4.438

7. Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization.

Authors: J E Landegent; N Jansen in de Wal; G J van Ommen; F Baas; J J de Vijlder; P van Duijn; M Van der Ploeg
Journal: Nature Date: 1985 Sep 12-18 Impact factor: 49.962

8. Presence of an allelic EcoRI restriction fragment of the c-mos locus in leukocyte and tumor cell DNAs of breast cancer patients.

Authors: R Lidereau; D Mathieu-Mahul; C Theillet; M Renaud; M Mauchauffé; J Gest; C J Larsen
Journal: Proc Natl Acad Sci U S A Date: 1985-10 Impact factor: 11.205

9. Assignment of tissue-type plasminogen activator to chromosome 8 in man and identification of a common restriction length polymorphism within the gene.

Authors: F J Benham; N Spurr; S Povey; B T Brinton; P N Goodfellow; E Solomon; T J Harris
Journal: Mol Biol Med Date: 1984-08

10. Human proto-oncogene c-mos maps to 8q11.

Authors: J F Caubet; D Mathieu-Mahul; A Bernheim; C J Larsen; R Berger
Journal: EMBO J Date: 1985-09 Impact factor: 11.598

2 in total

Review 1. IL-17 receptor-based signaling and implications for disease.

Authors: Xiaoxia Li; Rami Bechara; Junjie Zhao; Mandy J McGeachy; Sarah L Gaffen
Journal: Nat Immunol Date: 2019-11-19 Impact factor: 25.606

2. Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Authors: Natalie Frede; Jessica Rojas-Restrepo; Andrés Caballero Garcia de Oteyza; Mary Buchta; Katrin Hübscher; Laura Gámez-Díaz; Michele Proietti; Shiva Saghafi; Zahra Chavoshzadeh; Pere Soler-Palacin; Nermeen Galal; Mehdi Adeli; Juan Carlos Aldave-Becerra; Moudjahed Saleh Al-Ddafari; Ömür Ardenyz; T Prescott Atkinson; Fulya Bektas Kut; Fatih Çelmeli; Helen Rees; Sara S Kilic; Ilija Kirovski; Christoph Klein; Robin Kobbe; Anne-Sophie Korganow; Desa Lilic; Peter Lunt; Niten Makwana; Ayse Metin; Tuba Turul Özgür; Ayse Akman Karakas; Suranjith Seneviratne; Roya Sherkat; Ana Berta Sousa; Ekrem Unal; Turkan Patiroglu; Volker Wahn; Horst von Bernuth; Margo Whiteford; Rainer Doffinger; Zineb Jouhadi; Bodo Grimbacher
Journal: J Clin Immunol Date: 2021-08-14 Impact factor: 8.317

2 in total