Literature DB >> 15121778

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.

L Pinson, J Augé, S Audollent, G Mattéi, H Etchevers, N Gigarel, F Razavi, D Lacombe, S Odent, M Le Merrer, J Amiel, A Munnich, G Meroni, S Lyonnet, M Vekemans, T Attié-Bitach.   

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Year:  2004        PMID： 15121778      PMCID： PMC1735763          DOI： 10.1136/jmg.2003.014829

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  23 in total

1.  Hedgehog-dependent E3-ligase Midline1 regulates ubiquitin-mediated proteasomal degradation of Pax6 during visual system development.

Authors:  Thorsten Pfirrmann; Enrico Jandt; Swantje Ranft; Ashwin Lokapally; Herbert Neuhaus; Muriel Perron; Thomas Hollemann
Journal:  Proc Natl Acad Sci U S A       Date:  2016-08-23       Impact factor: 11.205

Review 2.  The MID1 gene product in physiology and disease.

Authors:  Rossella Baldini; Martina Mascaro; Germana Meroni
Journal:  Gene       Date:  2020-04-10       Impact factor: 3.688

3.  Pediatric primary central nervous system germ cell tumors of different prognosis groups show characteristic miRNome traits and chromosome copy number variations.

Authors:  Hsei-Wei Wang; Yu-Hsuan Wu; Jui-Yu Hsieh; Muh-Lii Liang; Meng-En Chao; Da-Jung Liu; Ming-Ta Hsu; Tai-Tong Wong
Journal:  BMC Genomics       Date:  2010-02-24       Impact factor: 3.969

4.  Loss of extracellular superoxide dismutase leads to acute lung damage in the presence of ambient air: a potential mechanism underlying adult respiratory distress syndrome.

Authors:  Maria Carolina Gongora; Heinrich E Lob; Ulf Landmesser; Tomasz J Guzik; W David Martin; Kiyoski Ozumi; Susan M Wall; David Scott Wilson; Niren Murthy; Michael Gravanis; Tohru Fukai; David G Harrison
Journal:  Am J Pathol       Date:  2008-09-11       Impact factor: 4.307

5.  Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.

Authors:  Nuno Maia; Maria J Nabais Sá; Nataliya Tkachenko; Gabriela Soares; Isabel Marques; Bárbara Rodrigues; Ana M Fortuna; Rosário Santos; Arjan P M de Brouwer; Paula Jorge
Journal:  Mol Syndromol       Date:  2017-08-29

Review 6.  X-linked disorders with cerebellar dysgenesis.

Authors:  Ginevra Zanni; Enrico S Bertini
Journal:  Orphanet J Rare Dis       Date:  2011-05-15       Impact factor: 4.123

7.  Cellular and molecular basis of cerebellar development.

Authors:  Salvador Martinez; Abraham Andreu; Nora Mecklenburg; Diego Echevarria
Journal:  Front Neuroanat       Date:  2013-06-26       Impact factor: 3.856

8.  Developmental disorders of the midbrain and hindbrain.

Authors:  A James Barkovich
Journal:  Front Neuroanat       Date:  2012-03-06       Impact factor: 3.856

9.  Characterization With Gene Mutations in Han Chinese Patients With Hypospadias and Function Analysis of a Novel AR Genevariant.

Authors:  Lifen Chen; Junqi Wang; Wenli Lu; Yuan Xiao; Jihong Ni; Wei Wang; Xiaoyu Ma; Zhiya Dong
Journal:  Front Genet       Date:  2021-06-30       Impact factor: 4.599

10.  X-linked microtubule-associated protein, Mid1, regulates axon development.

Authors:  Tingjia Lu; Renchao Chen; Timothy C Cox; Randal X Moldrich; Nyoman Kurniawan; Guohe Tan; Jo K Perry; Alan Ashworth; Perry F Bartlett; Li Xu; Jing Zhang; Bin Lu; Mingyue Wu; Qi Shen; Yuanyuan Liu; Linda J Richards; Zhiqi Xiong
Journal:  Proc Natl Acad Sci U S A       Date:  2013-11-05       Impact factor: 11.205
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