Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg→ Cys at codon 120 …
C Flück, J Deladoey, K Rutishauser… - The Journal of …, 1998 - academic.oup.com
… a form of combined pituitary hormone deficiency (CPHD). A … , resulting in the substitution of
Arg→Cys in PROP1 at codon … Although in one patient TSH deficiency was the first symptom …
Arg→Cys in PROP1 at codon … Although in one patient TSH deficiency was the first symptom …
Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg474
T Yamazaki, A Katsumi, K Kagami, Y Okamoto… - 1996 - ashpublications.org
… a structure homologous to sex hormone binding globulin (… , Arg is conserved at their
corresponding positions, whereas in human SHBG49 and rat androgen binding protein,50 this Arg is …
corresponding positions, whereas in human SHBG49 and rat androgen binding protein,50 this Arg is …
The molecular genetics of growth hormone deficiency
AM Procter, JA Phillips III, DN Cooper - Human genetics, 1998 - Springer
… to lack amino acids 32 to 71, including one cysteine residue (Cys 53), and would therefore
be … the participation of the resulting free unpaired cysteine residue (Cys 165) in an illegitimate …
be … the participation of the resulting free unpaired cysteine residue (Cys 165) in an illegitimate …
Metabolic responses to the deficiency of Lys, Arg, Met, or His in the mammary gland of lactating goats
F Ying, XY Lin, WM Ma, HL Chi, ZG Yan, YF Song… - Small ruminant …, 2013 - Elsevier
… of Arg increased the U/O of Val, Ile, and Ser; deletion of Met increased that of Leu and Cys;
deletion of His increased that of Met, Leu, Gly, and Cys (… Regretfully, plasma hormone levels …
deletion of His increased that of Met, Leu, Gly, and Cys (… Regretfully, plasma hormone levels …
Effects of the mutations (Trp8—> Arg and Ile15—> Thr) in human luteinizing hormone (LH) beta-subunit on LH bioactivity in vitro and in vivo
N Suganuma, K Furui, F Kikkawa, Y Tomoda… - …, 1996 - academic.oup.com
… On the next day, cells were then washed twice with Cys- and Met-free … The motif in CGP
involves three disulfide bridges (9-57, 34-88, and 38-90 of Cys residues) arranged so that two …
involves three disulfide bridges (9-57, 34-88, and 38-90 of Cys residues) arranged so that two …
Clinical and hormonal features of a male adolescent with congenital isolated follicle-stimulating hormone deficiency
… contributes to its overall cysteine-knot structure [5]. Therefore, the novel Cys 122 → Arg …
Therefore, the Cys 122 → Arg mutation is likely to affect the alpha-beta interface as well. It is …
Therefore, the Cys 122 → Arg mutation is likely to affect the alpha-beta interface as well. It is …
L-arginine/nitric oxide amplifies the magnitude and duration of the luteinizing hormone surge induced by estrogen: involvement of neuropeptide Y
JJ Bonavera, PS Kalra, SP Kalra - Endocrinology, 1996 - academic.oup.com
… This restoration of the LH surge by L-Arg reveals for the first time a … of a deficiency in either
L-Arg itself or in a L-Arg-based signal that could be readily alleviated by exogenous L-Arg. It is …
L-Arg itself or in a L-Arg-based signal that could be readily alleviated by exogenous L-Arg. It is …
New approach to the diagnosis of growth hormone deficiency in adults
E Ghigo, G Aimaretti, L Gianotti… - European Journal of …, 1996 - academic.oup.com
… (GH) response to growth hormone-releasing hormone (GHRH) in … ARG + GHRH tests as
well as the measurement of serum insulin-like growth factor I (IGF-I) in diagnosing GH deficiency …
well as the measurement of serum insulin-like growth factor I (IGF-I) in diagnosing GH deficiency …
Mutations in PROP1 cause familial combined pituitary hormone deficiency
… A nucleotide C to T transition resulting in the substitution of Arg-Cys at codon 120 (amino acid
… GH releasing hormone, thyrotropin releasing hormone, and LH releasing hormone stimula…
… GH releasing hormone, thyrotropin releasing hormone, and LH releasing hormone stimula…
“Hot spot” in the PROP1 gene responsible for combined pituitary hormone deficiency
J Deladoëy, C Flück… - The Journal of …, 1999 - academic.oup.com
… (CGC→TGC, C217T) resulted in the substitution of Arg→Cys at codon 73. b, Intron 2: spice
… C to T transition resulting in the substitution of arginine→cysteine at codon 120 (R120C) (9). …
… C to T transition resulting in the substitution of arginine→cysteine at codon 120 (R120C) (9). …
相关搜索
- combined pituitary hormone deficiency
- prop1 gene mutation hormone deficiency
- patients with multiple pituitary hormone deficiency
- hormone deficiency patients
- spot region hormone deficiency
- pair deletion hormone deficiency
- absent puberty hormone deficiency
- central hypocortisolism hormone deficiency
- molecular analysis hormone deficiency
- two base pair deletion hormone deficiency
- constitutional growth delay hormone deficiency
- pit 1 gene hormone deficiency
- normal height hormone deficiency
- phenotypic variability arg → cys
- prop 1 gene hormone deficiency
- prop1 gene mutation arg → cys