排序方式: 共有34条查询结果,搜索用时 15 毫秒
1.
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma 下载免费PDF全文
Azzedine H Bolino A Taïeb T Birouk N Di Duca M Bouhouche A Benamou S Mrabet A Hammadouche T Chkili T Gouider R Ravazzolo R Brice A Laporte J LeGuern E 《American journal of human genetics》2003,72(5):1141-1153
Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. In some families from Japan and Brazil, a demyelinating CMT, mainly characterized by the presence of myelin outfoldings on nerve biopsies, cosegregated as an autosomal recessive trait with early-onset glaucoma. We identified two such large consanguineous families from Tunisia and Morocco with ages at onset ranging from 2 to 15 years. We mapped this syndrome to chromosome 11p15, in a 4.6-cM region overlapping the locus for an isolated demyelinating ARCMT (CMT4B2). In these two families, we identified two different nonsense mutations in the myotubularin-related 13 gene, MTMR13. The MTMR protein family includes proteins with a phosphoinositide phosphatase activity, as well as proteins in which key catalytic residues are missing and that are thus called "pseudophosphatases." MTM1, the first identified member of this family, and MTMR2 are responsible for X-linked myotubular myopathy and Charcot-Marie-Tooth disease type 4B1, an isolated peripheral neuropathy with myelin outfoldings, respectively. Both encode active phosphatases. It is striking to note that mutations in MTMR13 also cause peripheral neuropathy with myelin outfoldings, although it belongs to a pseudophosphatase subgroup, since its closest homologue is MTMR5/Sbf1. This is the first human disease caused by mutation in a pseudophosphatase, emphasizing the important function of these putatively inactive enzymes. MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork, which permits the outflow of the aqueous humor. Both of these tissues have the same embryonic origin. 相似文献
2.
Expression profile matrix of Arabidopsis transcription factor genes suggests their putative functions in response to environmental stresses 总被引:39,自引:0,他引:39 下载免费PDF全文
3.
4.
5.
6.
7.
Michael J. Walsh Azzedine Hammiche Tariq G. Fellous James M. Nicholson Marine Cotte Jean Susini Nigel J. Fullwood Pierre L. Martin-Hirsch Malcolm R. Alison Francis L. Martin 《Stem cell research》2009,3(1):15-27
Markers of gastrointestinal (GI) stem cells remain elusive. We employed synchrotron Fourier-transform infrared (FTIR) microspectroscopy to derive mid-infrared (IR) spectra along the length of human GI crypts. Tissue sections (10-μm thick) were floated onto BaF2 windows and image maps were acquired of small intestine and large bowel crypts in transmission mode with an aperture of ≤ 10 μm × 10 μm. Counting upwards in a step-size (≤ 10 μm) fashion from the crypt base, IR spectra were extracted from the image maps and each spectrum corresponding to a particular location was identified. Spectra were analyzed using principal component analysis plus linear discriminant analysis. Compared to putative crypt base columnar/Paneth cells, those assigned as label-retaining cells were chemically more similar to putative large bowel stem cells and, the small intestine transit-amplifying cells were closest to large bowel transit-amplifying cells; interestingly, the base of small intestine crypts was the most chemically-distinct. This study suggests that in the complex cell lineage of human GI crypts, chemical similarities as revealed by FTIR microspectroscopy between regions putatively assigned as stem cell, transit-amplifying and terminally-differentiated facilitates identification of cell function. 相似文献
8.
Jennyfer Levoux Alexandre Prola Peggy Lafuste Marianne Gervais Nathalie Chevallier Zeynab Koumaiha Kaouthar Kefi Laura Braud Alain Schmitt Azzedine Yacia Aurélie Schirmann Barbara Hersant Mounia Sid-Ahmed Sabrina Ben Larbi Katerina Komrskova Jakub Rohlena Frederic Relaix Jiri Neuzil Anne-Marie Rodriguez 《Cell metabolism》2021,33(3):688-690
9.
Bouslam N Bouhouche A Benomar A Hanein S Klebe S Azzedine H Di Giandomenico S Boland-Augé A Santorelli FM Durr A Brice A Yahyaoui M Stevanin G 《Human genetics》2007,121(3-4):413-420
Autosomal recessive spastic ataxias are a heterogeneous group of neurodegenerative diseases usually characterized by the early
onset of cerebellar and pyramidal signs. With the collaboration of the clinical European and Mediterranean SPATAX network,
we identified 15 families with 34 affected members presenting with ataxia and pyramidal signs or spasticity that were not
linked to the ARSACS locus on chromosome 13. In an informative consanguineous Moroccan family, we mapped a novel locus, SAX2, to chromosome 17p13. The minimal linked interval lies in a region of 6.1 cM flanked by markers D17S1845/1583 and D17S1854 (Z
max = 3.21). Three of the remaining 14 families were also possibly linked to SAX2. The overall clinical picture in nine patients was cerebellar ataxia with pyramidal signs and/or spasticity. Onset occurred
before the age of 15 years in two families and in adulthood in the other two. Interestingly, in the largest SAX2 family, the
presenting clinical sign was dysarthria, which is not common in other forms of inherited ataxias or spastic ataxias, whereas
gait difficulties appeared later. Most cases also showed fasciculations suggesting that both lower and upper motor neurons
are involved in the disease process. No mutations were found in the coding exons of KIF1C, ARRB2 and ANKFY1, three genes in the candidate region.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.
Naima Bouslam and Ahmed Bouhouche are co-first authors. 相似文献
10.
Bone A Guthmann JP Assal A Rousset D Degeorges A Morel P Valette M Enouf V Jacquot E Pelletier B Le Strat Y Pillonel J Fonteneau L van der Werf S Lina B Tiberghien P Lévy-Bruhl D 《PloS one》2012,7(3):e33056