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of 6
pro vyhledávání: '"Tarja Lamminen"'
Publikováno v:
MHR: Basic science of reproductive medicine. 11:601-605
FSH is a pituitary gonadotropin that along with LH plays a key role in the regulation of gonadal function. The gonadotropic hormones are composed of two subunits, the common alpha subunit and the hormone-specific beta subunit, which determines the bi
Autor:
Ilpo Huhtaniemi, Jukka Hellman, Pirjo Pakarinen, Pulak R. Manna, Rene J. Herrera, Tarja Lamminen, Min Jiang
Publikováno v:
Molecular Human Reproduction. 8:201-212
Upon screening for polymorphisms in the human luteinizing hormone beta-subunit (LH beta) gene, we discovered a novel mutation in the LH beta signal peptide with functional consequences for signal transduction in mouse Leydig tumour cells (mLTC-1). Th
Autor:
Eeva Nikoskelainen, Vesa Juvonen, Pertti Aula, Marja-Liisa Savontaus, Tarja Lamminen, Maila Penttinen
Publikováno v:
Human Mutation. 9:412-417
Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutation at position 11778, 3460, or 14484. Approximately 14% of families show heteroplasmy for the pathogenic muta
Autor:
Tarja Lamminen, Ilpo Huhtaniemi
Publikováno v:
European journal of pharmacology. 414(1)
Mutations of the luteinizing hormone (LH) subunit genes are extremely rare. Only one polymorphic LHbeta gene variant makes an exception. In 1992, an immunologically anomalous form of LH was found in a healthy woman, and it was subsequently found to b
Autor:
Pertti Aula, Vesa Juvonen, Mårten Wikström, Eeva Nikoskelainen, Anna Majander, Marja-Liisa Savontaus, Tarja Lamminen
Publikováno v:
FEBS letters. 412(2)
A lowered efficiency of oxidative phosphorylation was recently found in a Leber hereditary optic neuropathy (LHON) proband carrying a mutation in the mtDNA gene for subunit 6 of the membrane-bound F0 segment of the F1F0-ATP synthase [9]. This phenoty
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
Autor:
Tarja Lamminen, Eeva Nikoskelainen, Marja-Liisa Savontaus, Vesa Juvonen, Kirsi Huoponen, Pertti Aula
Publikováno v:
Human genetics. 92(4)
The mitochondrial complex I genes were sequenced in seven Leber hereditary optic neuroretinopathy (LHON) families without the ND4/11,778 and ND1/3460 mutations. Four replacement mutations restricted only to LHON families were found, one in the ND1 ge