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A Mutational Hot Spot in the Prop-1 Gene in Russian Children with Combined Pituitary Hormone Deficiency (1998)

Fofanova, Olga V. ; Takamura, Noboru ; Kinoshita, Ei-ichi ; [et al.]

Springer

Pituitary 1 (1998), S. 45-49

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ISSN: 1573-7403

Keywords: combined pituitary hormone deficiency (CPHD) ; prophet of Pit-1 (Prop-1) ; 2-base pair deletion GA296 ; Russia

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Combined pituitary hormone deficiency (CPHD), including growth hormone (GH), prolactin (Prl) and thyroid-stimulating hormone (TSH) in children is now considered a heterogeneous syndrome. Recent findings on expression of mouse pituitary-specific homeodomain factors demonstrate dependence of adenopituitary ontogeny on interactive expression of these factors, suggesting their involvement in etiology of CPHD. Prophet of Pit-1 (Prop-1) gene, a novel pituitary-specific homeodomain factor, was analyzed in 14 Russian children with CPHD, in whom Pit-1 gene was intact. We found a mutational hot spot in three patients from two families in homeodomain part of the second exon of Prop-1 gene. The common 2- base pair deletion (GA296) in the homozygous state resulted in a Serine to Stop codon (S109X) substitution and generated a truncated Prop-1 protein. Parents were phenotypically normal and heterozygous for GA296 deletion, indicating an autosomal recessive inheritance. These results demonstrate a novel type of Prop-1 gene mutation as one of the causes of CPHD in Russian patients.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1023/A:1009918924945

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Molecular analysis of a patient with Beckwith-Wiedemann syndrome, rhabdomyosarcoma and renal cell carcinoma (1994)

Matsumoto, Tadashi ; Kinoshita, Ei-ichi ; Maeda, Hidenori ; [et al.]

Springer

Journal of human genetics 39 (1994), S. 225-234

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ISSN: 1435-232X

Keywords: Beckwith-Wiedemann syndrome ; rhabdomyosarcoma ; renal cell carcinoma ; insulin-like growth factor II gene ; loss of heterozygosity ; loss of imprinting

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary We described a patient with Beckwith-Wiedemann syndrome associated with rhabdomyosarcoma (RMS), and renal cell carcinoma (RCC). Karyotypes of peripheral lymphocytes and RMS cells were normal. DNA analyses showed maternal loss of heterozygosity (LOH) at 11p15 region in RMS but not in RCC. The insulin-like growth factor II gene (IGF2) was found to be expressed at a moderate level in RMS but not in RCC byin situ hybridization. Each of parental allele-derivedIGF2 transcript was detected in RCC, while maternal allele-derived transcript was weak in RMS because of maternal LOH. These results suggest that (1) loss of imprinting (LOI) ofIGF2 might be responsible for BWS, (2) on the other hand, LOI itself might not induce tumor occurrence in tissues where the control of tissue-specific expression ofIGF2 is maintained, (3) increased expression ofIGF2 due to maternal loss of a putative controller gene forIGF2 at 11p15 might predispose to sustaining tumorigenic mutations and tumor progression, (4) loss of a putative onco-suppressor gene at 11p15 might induce RMS occurrence. The cause of RCC was thought to be different from that of RMS.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01876842

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A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy (1994)

Matsumoto, Tadashi ; Kondoh, Tatsuro ; Masuzaki, Hideaki ; [et al.]

Springer

Journal of human genetics 39 (1994), S. 345-351

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ISSN: 1435-232X

Keywords: X-linked adrenoleukodystrophy ; prenatal diagnosis ; point mutation ; ATP-binding site

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary A prenatal diagnosis was performed in a family with X-linked adrenoleukodystrophy (ALD). A fetus was at high risk of suffering the disease by segregation analysis and by very long chain fatty acid-CoA synthetase activity assay. A transition (G to A) at codon 617 of the candidate ALD gene was detected by reverse transcription PCR (RT-PCR) based sequencing of the fetal liver RNA. The mutation was located in highly conserved ATP-binding site in this gene and deduced amino acid transversion R617H was thought to be the cause of ALD in this family.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01874053

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Rapid detection of a point mutation in thyroid-stimulating hormoneβ-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency (1991)

Mori, Ryogo ; Sawai, Tomoko ; Kinoshita, Ei-ichi ; [et al.]

Springer

Journal of human genetics 36 (1991), S. 313-316

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ISSN: 1435-232X

Keywords: congenital isolated thyroid-stimulating hormone deficiency ; hypothyroidism ; thyroid-stimulating hormone β chain ; polymerase chain reaction (PCR)

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary Previous study showed that congenital isolated TSH deficiency in Japan is resulted exclusively from a G-A transition at nucleotide 145 in exone 2 of the TSHβ-subunit gene. All reported cases were from the inbred in Shikoku Island. We describe here a 10-year-old boy with hereditary TSH deficiency in the same area. The patient was born with a weight of 3,225 g to non-consanguineous parents. Evaluation at age 2 months revealed typical manifestations of cretinism without goiter. Serum T4, T3, and TSH values were 2.53 μg/dl, 107 ng/dl, and 0.5 μU/ml, respectively. A TRH stimulation test showed no increment of serum TSH value. Other anterior pituitary hormone levels were all within the normal range. Two oligonucleotide primers T1a and T1b were synthesized according to the sequence data. Amplified 169 bp nucleotides in exon 2 of the TSHβ gene with this primer set were digested withMaeI. Both the phenotypically normal brother and normal controls showed only the 169 bp fragment, whereas the proband showed 140 and 29 bp fragments and both parents showed three fragments; 169, 140, and 29 bp. These results were consistent with the point mutation of TSHβ gene in Japanese patients with congenital isolated TSH deficiency. Our PCR method withMaeI digestion contributes to the rapid detection of the homozygous patient and the heterozygous carrier.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01883604

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