Concepedia

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Lina Basel‐Vanagaite, Ofer Sarig, Dov Hershkovitz, Dana Fuchs‐Telem, Debora Rapaport, Andrea Gat, Gila Isman, Idit Shirazi, Mordechai Shohat, Claes D. Enk,

The American Journal of Human Genetics · 2009 · 97 citations · 32 references

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32

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Yi Yang, Afif Hentati, Han‐Xiang Deng et al. · Nature Genetics · 2001 · 732 citations

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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Collette K. Hand, Hitoshi Osuga, Yoshiko Yanagisawa et al. · Nature Genetics · 2001 · 676 citations

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Rab5 regulates motility of early endosomes on microtubules

Erik Nielsen, Fedor F. Severin, Jonathan Backer et al. · Nature Cell Biology · 1999 · 508 citations

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou et al. · Nature Genetics · 2007 · 376 citations · Full text

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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

Bart Loeys · Human Molecular Genetics · 2002 · 315 citations · Full text

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