Results 311 to 320 of about 135,756 (330)

Germ-line mutation of Foxn5 gene in mouse lineage

International Journal of Molecular Medicine, 2004
Amplified region (amplicon) around MLL gene is closely linked to the 11q23.3 commonly deleted region of neuroblastoma, which includes cancer-associated genes such as PHLDB1 (LL5A), BCL9L, FOXN5 (FOXR1), CBL, MFRP, and PVRL1 (Nectin) genes. FOXN6 (FOXR2) gene at human chromosome Xp11.21 is generated due to retrotransposition of ancestral Foxn5 gene ...
Masuko, Katoh, Masaru, Katoh
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Novel SDHD germ‐line mutations in pheochromocytoma patients

European Journal of Clinical Investigation, 2007
AbstractBackground  SDHD germ‐line mutations predispose to pheochromocytoma (PCC) and paraganglioma (PGL).Material and methods  The incidence and types of SDHD germ‐line mutations are determined in 70 patients with apparently sporadic adrenal and extra‐adrenal PCC.Results  SDHD sequence variants were identified in the germ line of five patients.
C, Neumayer, A, Moritz, R, Asari, A, Weinhäusel, T, Hölzenbein, G, Kretschmer, B, Niederle, O A, Haas   +7 more
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Heterozygous Germ Line hCHK2 Mutations in Li-Fraumeni Syndrome

Science, 1999
The hCHK2 gene encodes the human homolog of the yeast Cds1 and Rad53 G 2 checkpoint kinases, whose activation in response to DNA damage prevents cellular entry into mitosis. Here, it is shown that heterozygous germ line mutations in hCHK2 occur in Li-Fraumeni syndrome,
Bell, Daphne W., Varley, Jennifer M., Szydlo, Tara E., Kang, Deborah H., Wahrer, Doke C R, Shannon, Kristen E., Lubratovich, Marcie, Verselis, Sigitas J., Isselbacher, Kurt J., Fraumeni, Joseph F., Birch, Julian M., Li, Frederick P., Garber, Judy E., Haber, Daniel A.   +13 more
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Screening for germ‐line mutations in the NF2 Gene

Genes, Chromosomes and Cancer, 1995
AbstractNeurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease that predisposes to the development of tumors of the nervous system, particularly meningiomas and schwannomas. The gene which, when altered, causes NF2, is localized on chromosome 22 and has recently been identified.
Philippe Mérel, Khé Hoang‐Xuan, Marc Sanson, Emilia Bijlsma, Guy Rouleau, Pierre Laurent‐Puig, Stephan Pulst, Michael Baser, Gilbert Lenoir, Jean Marc Sterkers, Jacques Philippon, François Resche, Victor F. Mautner, Georges Fischer, Theo Hulsebos, Alain Aurias, Olivier Delattre, Gilles Thomas   +17 more
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Germ line origins of de novo mutations in hemophilia B families

Human Genetics, 1994
The germ line of origin for 13 of 14 de novo hemophilia B mutations has been determined. When added to previous reports, the origin, assuming no mosaicism, occurred in 43 female and 33 male gametes. Mutation rate estimates are twofold higher in males than in females.
A R, Thompson, S H, Chen
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Germ line and somatic mutations of BRAF V599E in ovarian carcinoma

International Journal of Gynecological Cancer, 2007
It has been shown that ovarian low-grade serous carcinoma evolves out of a stepwise progression from benign serous cystadenoma to serous borderline tumor (SBT) to micropapillary serous carcinoma (MPSC), and that BRAF activation is a very early somatic event in the tumorigenesis.
M, Ueda, E, Toji, S, Noda
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Absence of p53 germ-line mutations in bilateral breast cancer patients

Human Genetics, 1992
The cause of Li-Fraumeni syndrome, a rare group syndrome of familial cancers, has recently been identified. Patients with this inherited condition are highly susceptible to specific neoplasms, including early-onset breast cancers. The available evidence links Li-Fraumeni syndrome to inherited mutations of the tumor suppressor gene p53.
R, Lidereau, T, Soussi
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Germ-line msh6 mutations in colorectal cancer families.

Cancer research, 1999
Hereditary nonpolyposis colorectal carcinoma (HNPCC) is due primarily to inherited mutations in two mismatch repair genes, MSH2 and MLH1, whereas germ-line mutations in other mismatch repair genes are rare. We examined the frequency of germ-line msh6 mutations in a population-based series of 140 colorectal cancer patients, including 45 sporadic cases ...
R D, Kolodner, J D, Tytell, J L, Schmeits, M F, Kane, R D, Gupta, J, Weger, S, Wahlberg, E A, Fox, D, Peel, A, Ziogas, J E, Garber, S, Syngal, H, Anton-Culver, F P, Li   +13 more
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Characterization of a germ-line proliferation mutation in C. elegans

Development, 1992
ABSTRACT The C. elegans germ line is generated by extensive proliferation of the two germ-line progenitor cells present in newly hatched larvae. We describe genetic and phenotypic characterization of glp-4, a locus whose product is required for normal proliferation of the germ line.
M J, Beanan, S, Strome
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Sarcoma and germ-line DICER1 mutations

The Lancet Oncology, 2016
Leanne, de Kock, William D, Foulkes
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