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R. M. Joshi A. L. Pandya B. A. Bharucha Ravi Ramakantan N. B. Kumta 《Indian journal of pediatrics》1987,54(2):271-273
A case of a 7-year-old boy who presented with a pontine space occupying lesion and had typical findings of acrodysostosis
is presented. His 9-year-old sister and 5-year-old brother also showed similar skeletal features. His mother had short stature
and a similar facial and limb features but normal radiographs, whereas the father had short stature but normal limbs and face.
The pedigree of this family is suggestive of a syndrome caused by a dominant gene. The rarity of this disorder with an interesting
pedigree chart prompted us to present this case and highlight the important diagnostic features and inheritance of this condition. 相似文献
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Cloning of cDNA coding for connective tissue activating peptide III from a human platelet-derived lambda gt11 expression library 总被引:1,自引:1,他引:0
We report here the cloning of the cDNA coding for platelet connective tissue-activating peptide-III (CTAP-III) from a lambda gt11 expression library prepared using messenger RNA (mRNA) isolated from human platelets. The open reading frame of the clone coded for a protein with 128 amino acid residues. Since the precursor of CTAP-III, platelet basic protein (PBP is 94 amino acids long, the 5'-translated region of the cDNA codes for a leader sequence 34 amino acids long. This leader sequence, like the sequence of mature CTAP-III, shows significant homology to the sequence of platelet factor 4 (PF4), the only other platelet specific alpha-granule protein cloned until now, from a human erythroleukemic (HEL) cell line-derived cDNA library. These leader sequences are probably critical for targeting such proteins to the alpha-granule. Northern blot hybridization with platelet and megakaryocyte mRNA shows a single species mRNA of approximately 0.8 kb, suggesting that the corresponding cDNA is full length. The cloning of platelet specific CTAP-III provides additional evidence for the platelet specificity of the cDNA library used. 相似文献
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M P Kilgard P K Pandya J L Vazquez D L Rathbun N D Engineer R Moucha 《Audiology & neuro-otology》2001,6(4):196-202
Cortical responses are adjusted and optimized throughout life to meet changing behavioral demands and to compensate for peripheral damage. The cholinergic nucleus basalis (NB) gates cortical plasticity and focuses learning on behaviorally meaningful stimuli. By systematically varying the acoustic parameters of the sound paired with NB activation, we have previously shown that tone frequency and amplitude modulation rate alter the topography and selectivity of frequency tuning in primary auditory cortex. This result suggests that network-level rules operate in the cortex to guide reorganization based on specific features of the sensory input associated with NB activity. This report summarizes recent evidence that temporal response properties of cortical neurons are influenced by the spectral characteristics of sounds associated with cholinergic modulation. For example, repeated pairing of a spectrally complex (ripple) stimulus decreased the minimum response latency for the ripple, but lengthened the minimum latency for tones. Pairing a rapid train of tones with NB activation only increased the maximum following rate of cortical neurons when the carrier frequency of each train was randomly varied. These results suggest that spectral and temporal parameters of acoustic experiences interact to shape spectrotemporal selectivity in the cortex. Additional experiments with more complex stimuli are needed to clarify how the cortex learns natural sounds such as speech. 相似文献