Gene Symbol: Des
Description: desmin
Alias: desmin
Species: mouse
Products:     Des

Top Publications

  1. Weitzer G, Milner D, Kim J, Bradley A, Capetanaki Y. Cytoskeletal control of myogenesis: a desmin null mutation blocks the myogenic pathway during embryonic stem cell differentiation. Dev Biol. 1995;172:422-39 pubmed
    ..muscle myogenesis of mouse embryos was developed and used to investigate the effects of the disruption of the desmin gene on muscle cell differentiation...
  2. Fountoulakis M, Soumaka E, Rapti K, Mavroidis M, Tsangaris G, Maris A, et al. Alterations in the heart mitochondrial proteome in a desmin null heart failure model. J Mol Cell Cardiol. 2005;38:461-74 pubmed
    b>Desmin, the major muscle-specific intermediate filament (IF) protein, is essential for mitochondrial behavior and function and maintenance of healthy muscle...
  3. Hellstrom M, Kalén M, Lindahl P, Abramsson A, Betsholtz C. Role of PDGF-B and PDGFR-beta in recruitment of vascular smooth muscle cells and pericytes during embryonic blood vessel formation in the mouse. Development. 1999;126:3047-55 pubmed
    ..Here, we used desmin and alpha-smooth muscle actin (ASMA) as markers to analyze vSMC/PC development in PDGF-B-/- and PDGFR-beta-/- ..
  4. Zhu J, Motejlek K, Wang D, Zang K, Schmidt A, Reichardt L. beta8 integrins are required for vascular morphogenesis in mouse embryos. Development. 2002;129:2891-903 pubmed
    ..This study thus identifies a molecule crucial for vascular patterning in embryonic yolk sac and brain. ..
  5. Meyer G, Lieber R. Skeletal muscle fibrosis develops in response to desmin deletion. Am J Physiol Cell Physiol. 2012;302:C1609-20 pubmed publisher
    ..mild and progressive fibrotic adaptation in skeletal muscle lacking the cytoskeletal intermediate filament protein desmin. Muscles lacking desmin become progressively stiffer, accumulate increased collagen, and increase expression of ..
  6. Shah S, Davis J, Weisleder N, Kostavassili I, McCulloch A, Ralston E, et al. Structural and functional roles of desmin in mouse skeletal muscle during passive deformation. Biophys J. 2004;86:2993-3008 pubmed
    Mechanical interactions between desmin and Z-disks, costameres, and nuclei were measured during passive deformation of single muscle cells...
  7. Kostareva A, Sjoberg G, Bruton J, Zhang S, Balogh J, Gudkova A, et al. Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria. J Muscle Res Cell Motil. 2008;29:25-36 pubmed publisher
    b>Desmin mutations underlie inherited myopathies/cardiomyopathies with varying severity and involvement of the skeletal and cardiac muscles...
  8. Miner J, Li C. Defective glomerulogenesis in the absence of laminin alpha5 demonstrates a developmental role for the kidney glomerular basement membrane. Dev Biol. 2000;217:278-89 pubmed
  9. Kablar B, Krastel K, Ying C, Asakura A, Tapscott S, Rudnicki M. MyoD and Myf-5 differentially regulate the development of limb versus trunk skeletal muscle. Development. 1997;124:4729-38 pubmed
    ..we performed immunohistochemistry on sectioned Myf-5 and MyoD mutant embryos with antibodies reactive with desmin, nestin, myosin heavy chain, sarcomeric actin, Myf-5, MyoD and myogenin...

More Information


  1. Haubold K, Allen D, Capetanaki Y, Leinwand L. Loss of desmin leads to impaired voluntary wheel running and treadmill exercise performance. J Appl Physiol (1985). 2003;95:1617-22 pubmed
    ..voluntary wheel running and forced treadmill running exercise performance of wild-type mice and mice null for the desmin gene...
  2. Kramerova I, Kudryashova E, Tidball J, Spencer M. Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. Hum Mol Genet. 2004;13:1373-88 pubmed
    ..These studies suggest a role for C3 in myofibrillogenesis and sarcomere remodeling...
  3. Relaix F, Rocancourt D, Mansouri A, Buckingham M. A Pax3/Pax7-dependent population of skeletal muscle progenitor cells. Nature. 2005;435:948-53 pubmed
  4. Vasyutina E, Martarelli B, Brakebusch C, Wende H, Birchmeier C. The small G-proteins Rac1 and Cdc42 are essential for myoblast fusion in the mouse. Proc Natl Acad Sci U S A. 2009;106:8935-40 pubmed publisher
  5. Bladt F, Riethmacher D, Isenmann S, Aguzzi A, Birchmeier C. Essential role for the c-met receptor in the migration of myogenic precursor cells into the limb bud. Nature. 1995;376:768-71 pubmed
    ..We have therefore identified a paracrine signalling system that regulates migration of myogenic precursor cells. ..
  6. Venters S, Thorsteinsdottir S, Duxson M. Early development of the myotome in the mouse. Dev Dyn. 1999;216:219-32 pubmed
    ..studies of transgene expression pattern, coupled with immunohistochemistry for the muscle structural proteins desmin and slow myosin heavy chain we describe a gradient of maturity for the cells within the developing myotome...
  7. Liu J, Chen Q, Huang W, Horak K, Zheng H, Mestril R, et al. Impairment of the ubiquitin-proteasome system in desminopathy mouse hearts. FASEB J. 2006;20:362-4 pubmed
    ..and aberrant aggregation are associated with many severe disorders, such as neural degenerative diseases, desmin-related myopathy (DRM), and congestive heart failure...
  8. Kassar Duchossoy L, Giacone E, Gayraud Morel B, Jory A, Gomès D, Tajbakhsh S. Pax3/Pax7 mark a novel population of primitive myogenic cells during development. Genes Dev. 2005;19:1426-31 pubmed
    ..These findings identify critical cell populations during lineage restriction, and provide a framework for defining myogenic cell states for therapeutic studies. ..
  9. Agbulut O, Li Z, Mouly V, Butler Browne G. Analysis of skeletal and cardiac muscle from desmin knock-out and normal mice by high resolution separation of myosin heavy-chain isoforms. Biol Cell. 1996;88:131-5 pubmed
    ..Using this high resolution technique it was possible to detect modifications in the myosin heavy-chain expression in both cardiac and skeletal muscles of desmin knock-out mice.
  10. Grifone R, Demignon J, Houbron C, Souil E, Niro C, Seller M, et al. Six1 and Six4 homeoproteins are required for Pax3 and Mrf expression during myogenesis in the mouse embryo. Development. 2005;132:2235-49 pubmed
    ..These results highlight the different roles played by Six proteins during skeletal myogenesis. ..
  11. Laurin M, Fradet N, Blangy A, Hall A, Vuori K, Cote J. The atypical Rac activator Dock180 (Dock1) regulates myoblast fusion in vivo. Proc Natl Acad Sci U S A. 2008;105:15446-51 pubmed publisher
  12. Milner D, Weitzer G, Tran D, Bradley A, Capetanaki Y. Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J Cell Biol. 1996;134:1255-70 pubmed
    b>Desmin, the muscle specific intermediate filament (IF) protein encoded by a single gene, is expressed in all muscle tissues...
  13. Jung Y, Kissil J, McCarty J. ?8 integrin and band 4.1B cooperatively regulate morphogenesis of the embryonic heart. Dev Dyn. 2011;240:271-7 pubmed publisher
    ..These data are the first to identify cell adhesion and signaling pathways regulated by ?v?8 integrin and Band 4.1B as essential for normal formation and function of the heart during embryogenesis. ..
  14. Pu W, Ishiwata T, Juraszek A, Ma Q, Izumo S. GATA4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev Biol. 2004;275:235-44 pubmed
    ..These data demonstrate that multiple aspects of embryonic cardiac morphogenesis and function are exquisitely sensitive to small changes in GATA4 expression levels. ..
  15. Boriek A, Capetanaki Y, Hwang W, Officer T, Badshah M, Rodarte J, et al. Desmin integrates the three-dimensional mechanical properties of muscles. Am J Physiol Cell Physiol. 2001;280:C46-52 pubmed
    ..Furthermore, we find that the diaphragms of null mutants for the cytoskeletal protein desmin show 1) significant reductions in coupling between the longitudinal and transverse properties, indicating for the ..
  16. Li H, Capetanaki Y. An E box in the desmin promoter cooperates with the E box and MEF-2 sites of a distal enhancer to direct muscle-specific transcription. EMBO J. 1994;13:3580-9 pubmed
    The first 85 nt upstream of the transcription initiation site of the mouse desmin gene, which contain an E box (E1), the binding site of the helix-loop-helix myogenic regulators, are sufficient to confer low level muscle-specific ..
  17. Madison B, Braunstein K, Kuizon E, Portman K, Qiao X, Gumucio D. Epithelial hedgehog signals pattern the intestinal crypt-villus axis. Development. 2005;132:279-89 pubmed
    ..Surprisingly, modest attenuation of Hh also perturbs villus patterning. Desmin-positive smooth muscle progenitors are expanded, and ISEMFs are mislocalized...
  18. Zou Z, Enis D, Bui H, Khandros E, Kumar V, Jakus Z, et al. The secreted lymphangiogenic factor CCBE1 is essential for fetal liver erythropoiesis. Blood. 2013;121:3228-36 pubmed publisher
    ..Our findings reveal that CCBE1 plays an essential role in regulating the fetal liver erythropoietic environment and suggest that EBI formation is regulated differently in the fetal liver and bone marrow...
  19. Balogh J, Merisckay M, Li Z, Paulin D, Arner A. Hearts from mice lacking desmin have a myopathy with impaired active force generation and unaltered wall compliance. Cardiovasc Res. 2002;53:439-50 pubmed
    b>Desmin intermediate filaments are key structures in the cytoskeleton of cardiac muscle. Since they are associated with Z-discs and intercalated discs, they may have a role in sarcomere alignment or force transmission...
  20. Li Z, Mericskay M, Agbulut O, Butler Browne G, Carlsson L, Thornell L, et al. Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle. J Cell Biol. 1997;139:129-44 pubmed
    A null mutation was introduced into the mouse desmin gene by homologous recombination. The desmin knockout mice (Des -/-) develop normally and are fertile...
  21. Zeisberg E, Ma Q, Juraszek A, Moses K, Schwartz R, Izumo S, et al. Morphogenesis of the right ventricle requires myocardial expression of Gata4. J Clin Invest. 2005;115:1522-31 pubmed
    ..Our results demonstrate a general role of myocardial Gata4 in regulating cardiomyocyte proliferation and a specific, stage-dependent role in regulating the morphogenesis of the RV and the atrioventricular canal. ..
  22. Shah S, Love J, O Neill A, Lovering R, Bloch R. Influences of desmin and keratin 19 on passive biomechanical properties of mouse skeletal muscle. J Biomed Biotechnol. 2012;2012:704061 pubmed publisher
    ..Based on their prevalence, biomechanical properties and localization, desmin and keratin intermediate filaments (IFs) are likely to participate in structural connectivity and force ..
  23. Cohen S, Zhai B, Gygi S, Goldberg A. Ubiquitylation by Trim32 causes coupled loss of desmin, Z-bands, and thin filaments in muscle atrophy. J Cell Biol. 2012;198:575-89 pubmed publisher
    ..Down-regulation of Trim32 during fasting reduced fiber atrophy and the rapid loss of thin filaments. Desmin filaments were proposed to maintain the integrity of thin filaments...
  24. Bolcato Bellemin A, Lefebvre O, Arnold C, Sorokin L, Miner J, Kedinger M, et al. Laminin alpha5 chain is required for intestinal smooth muscle development. Dev Biol. 2003;260:376-90 pubmed
  25. Chen F, Chang R, Trivedi M, Capetanaki Y, Cryns V. Caspase proteolysis of desmin produces a dominant-negative inhibitor of intermediate filaments and promotes apoptosis. J Biol Chem. 2003;278:6848-53 pubmed
    ..Here we describe the muscle-specific intermediate filament protein desmin as a novel caspase substrate...
  26. Konieczny P, Fuchs P, Reipert S, Kunz W, Zeöld A, Fischer I, et al. Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms. J Cell Biol. 2008;181:667-81 pubmed publisher
    ..plectin isoforms expressed in muscle, plectin 1d and 1f, integrate fibers by specifically targeting and linking desmin IFs to Z-disks and costameres, whereas plectin 1b establishes a linkage to mitochondria...
  27. Anderson J, Li Z, Goubel F. Passive stiffness is increased in soleus muscle of desmin knockout mouse. Muscle Nerve. 2001;24:1090-2 pubmed
    The effects of an absence of desmin on passive stiffness of skeletal muscle were analyzed using soleus muscles from desmin knockout mice. Stiffness was evaluated by analyzing the passive tension induced by a ramp-and-hold extension test...
  28. Daneman R, Zhou L, Kebede A, Barres B. Pericytes are required for blood-brain barrier integrity during embryogenesis. Nature. 2010;468:562-6 pubmed publisher
    ..These data indicate that pericyte-endothelial cell interactions are critical to regulate the BBB during development, and disruption of these interactions may lead to BBB dysfunction and neuroinflammation during CNS injury and disease...
  29. Kubota Y, Hirashima M, Kishi K, Stewart C, Suda T. Leukemia inhibitory factor regulates microvessel density by modulating oxygen-dependent VEGF expression in mice. J Clin Invest. 2008;118:2393-403 pubmed publisher
  30. Thornell L, Carlsson L, Li Z, Mericskay M, Paulin D. Null mutation in the desmin gene gives rise to a cardiomyopathy. J Mol Cell Cardiol. 1997;29:2107-24 pubmed
    A null mutation in the desmin gene has been introduced into the germ line of mice. Such mice develop and reproduce normally proving that desmin is not needed either for the formation of the heart or the alignment of functioning myofibrils...
  31. Capetanaki Y, Milner D, Weitzer G. Desmin in muscle formation and maintenance: knockouts and consequences. Cell Struct Funct. 1997;22:103-16 pubmed
    b>Desmin, the muscle-specific member of the intermediate filament (IF) family, is one of the earliest known myogenic markers in both skeletal muscle and heart...
  32. Sam M, Shah S, Friden J, Milner D, Capetanaki Y, Lieber R. Desmin knockout muscles generate lower stress and are less vulnerable to injury compared with wild-type muscles. Am J Physiol Cell Physiol. 2000;279:C1116-22 pubmed
    ..investigated by measuring the magnitude of muscle force loss after cyclic eccentric contraction (EC) in normal and desmin null mouse extensor digitorum longus muscles...
  33. Bär H, Mücke N, Kostareva A, Sjoberg G, Aebi U, Herrmann H. Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages. Proc Natl Acad Sci U S A. 2005;102:15099-104 pubmed
    b>Desmin is the major intermediate filament (IF) protein of muscle...
  34. Shah S, Su F, Jordan K, Milner D, Friden J, Capetanaki Y, et al. Evidence for increased myofibrillar mobility in desmin-null mouse skeletal muscle. J Exp Biol. 2002;205:321-5 pubmed
    ..Extensor digitorum longus fifth toe muscles from wild-type (+/+) and desmin-null (des -/-) animals were passively stretched to varying lengths, and the horizontal displacement of adjacent Z-..
  35. Domínguez J, de la Rosa A, Navarro F, Franco D, Aranega A. Tissue distribution and subcellular localization of the cardiac sodium channel during mouse heart development. Cardiovasc Res. 2008;78:45-52 pubmed publisher
    ..5, shows a dynamic expression pattern during mouse heart development, indicating that it could play an important role in the acquisition of a mature pattern of conduction and contraction during cardiogenesis. ..
  36. Yang Z, Bowles N, Scherer S, Taylor M, Kearney D, Ge S, et al. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006;99:646-55 pubmed
    ..These mice also displayed interruption of DSP-desmin interaction at intercalated discs (IDs) and marked ultra-structural changes of IDs...
  37. Weisleder N, Taffet G, Capetanaki Y. Bcl-2 overexpression corrects mitochondrial defects and ameliorates inherited desmin null cardiomyopathy. Proc Natl Acad Sci U S A. 2004;101:769-74 pubmed
    ..Mice null for desmin, the muscle-specific member of the intermediate filament gene family, develop cardiomyopathy characterized by ..
  38. Meyer G, Schenk S, Lieber R. Role of the cytoskeleton in muscle transcriptional responses to altered use. Physiol Genomics. 2013;45:321-31 pubmed publisher
    In this work, the interaction between the loss of a primary component of the skeletal muscle cytoskeleton, desmin, and two common physiological stressors, acute mechanical injury and aging, were investigated at the transcriptional, ..
  39. Mo F, Muntean A, Chen C, Stolz D, Watkins S, Lau L. CYR61 (CCN1) is essential for placental development and vascular integrity. Mol Cell Biol. 2002;22:8709-20 pubmed
    ..The genetic and molecular basis of vessel bifurcation is presently unknown, and these findings provide new insight into this aspect of angiogenesis. ..
  40. O Neill A, Williams M, Resneck W, Milner D, Capetanaki Y, Bloch R. Sarcolemmal organization in skeletal muscle lacking desmin: evidence for cytokeratins associated with the membrane skeleton at costameres. Mol Biol Cell. 2002;13:2347-59 pubmed
    ..Here we examine the role of desmin, the major intermediate filament protein of muscle in organizing costameres...
  41. Linden M, Li Z, Paulin D, Gotow T, Leterrier J. Effects of desmin gene knockout on mice heart mitochondria. J Bioenerg Biomembr. 2001;33:333-41 pubmed
    In heart tissue from mice lacking the intermediate filament (IF) desmin, mitochondria show an abnormal shape and distribution (Thornell et al., 1997)...
  42. Lovering R, O Neill A, Muriel J, Prosser B, Strong J, Bloch R. Physiology, structure, and susceptibility to injury of skeletal muscle in mice lacking keratin 19-based and desmin-based intermediate filaments. Am J Physiol Cell Physiol. 2011;300:C803-13 pubmed publisher
    Intermediate filaments, composed of desmin and of keratins, play important roles in linking contractile elements to each other and to the sarcolemma in striated muscle...
  43. Li Z, Colucci Guyon E, Pincon Raymond M, Mericskay M, Pournin S, Paulin D, et al. Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev Biol. 1996;175:362-6 pubmed
    In order to further our understanding of the biological role of desmin, the muscle-specific intermediate filament protein, a null mutation in the desmin gene was introduced into the germ line of mice...
  44. Li H, Choudhary S, Milner D, Munir M, Kuisk I, Capetanaki Y. Inhibition of desmin expression blocks myoblast fusion and interferes with the myogenic regulators MyoD and myogenin. J Cell Biol. 1994;124:827-41 pubmed
    The muscle-specific intermediate filament protein, desmin, is one of the earliest myogenic markers whose functional role during myogenic commitment and differentiation is unknown...
  45. Chourbagi O, Bruston F, Carinci M, Xue Z, Vicart P, Paulin D, et al. Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly. Exp Cell Res. 2011;317:886-97 pubmed publisher
    Disorganization of the desmin network is associated with cardiac and skeletal myopathies characterized by accumulation of desmin-containing aggregates in the cells...
  46. Garcia Verdugo I, Synguelakis M, Degrouard J, Franco C, Valot B, Zivy M, et al. Interaction of surfactant protein A with the intermediate filaments desmin and vimentin. Biochemistry. 2008;47:5127-38 pubmed publisher
    ..Here we identify by mass spectrometry one of these SP-A targets as the intermediate filament (IF) desmin. In myometrial preparations derived from desmin-deficient mice, the absence of binding of SP-A to any 50 kDa ..
  47. Li Z, Mattei M, Mattei J, Paulin D. Assignment of the mouse desmin gene to chromosome 1 band C3. Genet Res. 1990;55:101-5 pubmed
    The chromosomal localization of the mouse gene coding for desmin, one of the muscle-specific intermediate filament subunits, was determined by in situ hybridization using a specific 3H-labelled DNA probe...
  48. Martin C, Meeson A, Robertson S, Hawke T, Richardson J, Bates S, et al. Persistent expression of the ATP-binding cassette transporter, Abcg2, identifies cardiac SP cells in the developing and adult heart. Dev Biol. 2004;265:262-75 pubmed
    ..We propose that the cardiac SP cell population functions as a progenitor cell population for the development, maintenance, and repair of the heart...
  49. McCright B, Gao X, Shen L, Lozier J, Lan Y, Maguire M, et al. Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation. Development. 2001;128:491-502 pubmed
    ..These data identify novel developmental roles for Notch2 in kidney, heart and eye development. ..
  50. Amano O, Yamane A, Shimada M, Koshimizu U, Nakamura T, Iseki S. Hepatocyte growth factor is essential for migration of myogenic cells and promotes their proliferation during the early periods of tongue morphogenesis in mouse embryos. Dev Dyn. 2002;223:169-79 pubmed
    ..The levels of HGF mRNA in the developing tongue decreased in accordance with the increase of desmin mRNA levels from E11 to E17...
  51. Arechederra M, Carmona R, Gonzalez Nuñez M, Gutierrez Uzquiza A, Bragado P, Cruz Gonzalez I, et al. Met signaling in cardiomyocytes is required for normal cardiac function in adult mice. Biochim Biophys Acta. 2013;1832:2204-15 pubmed publisher
    ..Our results highlight that HGF/Met signaling in cardiomyocytes plays a physiological cardio-protective role in adult mice by acting as an endogenous regulator of heart function through oxidative stress control. ..
  52. Sheng J, Feng H, Pinto J, Wei H, Jin J. Increases of desmin and α-actinin in mouse cardiac myofibrils as a response to diastolic dysfunction. J Mol Cell Cardiol. 2016;99:218-229 pubmed publisher
    Up-regulation of desmin has been reported in cardiac hypertrophy and failure but the pathophysiological cause and significance remain to be investigated...
  53. Ben Shoham A, Malkinson G, Krief S, Shwartz Y, Ely Y, Ferrara N, et al. S1P1 inhibits sprouting angiogenesis during vascular development. Development. 2012;139:3859-69 pubmed
  54. Liu X, Ramjiganesh T, Chen Y, Chung S, Hall S, SCHISSEL S, et al. Disruption of striated preferentially expressed gene locus leads to dilated cardiomyopathy in mice. Circulation. 2009;119:261-8 pubmed publisher
    ..These findings demonstrate that mutation of the Speg locus leads to cardiac dysfunction and a phenotype consistent with a dilated cardiomyopathy. ..
  55. Mavroidis M, Capetanaki Y. Extensive induction of important mediators of fibrosis and dystrophic calcification in desmin-deficient cardiomyopathy. Am J Pathol. 2002;160:943-52 pubmed
    Mice lacking the intermediate filament protein desmin demonstrate abnormal mitochondria behavior, disruption of muscle architecture, and myocardial degeneration with extensive calcium deposits and fibrosis...
  56. Gustafsson E, Almonte Becerril M, Bloch W, Costell M. Perlecan maintains microvessel integrity in vivo and modulates their formation in vitro. PLoS ONE. 2013;8:e53715 pubmed publisher
    ..Altogether these findings suggest that perlecan supports the maintenance of brain and skin subendothelial BMs and promotes vasculo- and angiogenesis by modulating FGF-2 function. ..
  57. Heimann P, Kuschel T, Jockusch H. Elimination by necrosis, not apoptosis, of embryonic extraocular muscles in the muscular dysgenesis mutant of the mouse. Cell Tissue Res. 2004;315:243-7 pubmed
    ..MDG myotubes in situ are eliminated by necrosis, not apoptosis. ..
  58. Faurobert E, Rome C, Lisowska J, Manet Dupé S, Boulday G, Malbouyres M, et al. CCM1-ICAP-1 complex controls ?1 integrin-dependent endothelial contractility and fibronectin remodeling. J Cell Biol. 2013;202:545-61 pubmed publisher
    ..Our data support that up-regulation of ?1 integrin activation participates in the progression of CCM lesions by destabilizing intercellular junctions through increased cell contractility and aberrant ECM remodeling. ..
  59. Lu S, Liu S, Wietelmann A, Kojonazarov B, Atzberger A, Tang C, et al. Developmental vascular remodeling defects and postnatal kidney failure in mice lacking Gpr116 (Adgrf5) and Eltd1 (Adgrl4). PLoS ONE. 2017;12:e0183166 pubmed publisher
  60. Kossler N, Stricker S, Rödelsperger C, Robinson P, Kim J, Dietrich C, et al. Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet. 2011;20:2697-709 pubmed publisher
    ..Our results demonstrate a requirement of neurofibromin for muscle formation and maintenance. This previously unrecognized function of neurofibromin may contribute to the musculoskeletal problems in NF1 patients. ..
  61. Huang J, Arsenault M, Kann M, Lopez Mendez C, Saleh M, Wadowska D, et al. The transcription factor Sry-related HMG box-4 (SOX4) is required for normal renal development in vivo. Dev Dyn. 2013;242:790-9 pubmed publisher
    ..Collectively, our results demonstrate an essential requirement of Sox4 for normal renal development in vivo. ..