Search Results - "Ronchetti, Adam"

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.

“…blind sterile (bs) is a spontaneous autosomal-recessive mouse mutation discovered more than 30 years ago. Phenotypically, bs mice exhibit nuclear cataracts and…”
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ADAM17 transactivates EGFR signaling during embryonic eyelid closure by Hassemer, Eryn L, Endres, Bradley, Toonen, Joseph A, Ronchetti, Adam, Dubielzig, Richard, Sidjanin, Duska J

“…During mammalian embryonic eyelid closure ADAM17 has been proposed to play a role as a transactivator of epidermal growth factor receptor (EGFR) signaling by…”
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Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome by Liegel, Ryan P., Ronchetti, Adam, Sidjanin, D.J.

“…Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous autosomal recessive syndrome characterized by congenital cataracts, shortening of…”
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A Disintegrin and Metalloproteinase10 (ADAM10) Regulates NOTCH Signaling during Early Retinal Development by Toonen, Joseph A, Ronchetti, Adam, Sidjanin, D J

“…ADAM10 and ADAM17 are two closely related members of the ADAM (a disintegrin and metalloprotease) family of membrane-bound sheddases, which proteolytically…”
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TBC1D20 mediates autophagy as a key regulator of autophagosome maturation by Sidjanin, D. J., Park, Anna K., Ronchetti, Adam, Martins, Jamaria, Jackson, William T.

“…In humans, loss of TBC1D20 (TBC1 domain family, member 20) protein function causes Warburg Micro syndrome 4 (WARBM4), an autosomal recessive disorder…”
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Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts by Merath, Kate, Ronchetti, Adam, Sidjanin, Duska J

“…The goal of this study was to functionally evaluate three previously uncharacterized heat shock factor protein 4 (HSF4) mutations (c.595_599delGGGCC,…”
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Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome by Liegel, Ryan P, Ronchetti, Adam, Sidjanin, D J

“…Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous autosomal recessive syndrome characterized by congenital cataracts, shortening of…”
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Functional analysis of the Hsf4(lop11) allele responsible for cataracts in lop11 mice by Liang, Lina, Liegel, Ryan, Endres, Brad, Ronchetti, Adam, Chang, Bo, Sidjanin, D J

“…Lens opacity 11 (lop11) is a spontaneous autosomal recessive mouse mutation resulting in cataracts. Insertion of an early transposable element (ETn) in intron…”
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Functional analysis of the Hsf4lop11 allele responsible for cataracts in lop11 mice by Liang, Lina, Liegel, Ryan, Endres, Brad, Ronchetti, Adam, Chang, Bo, Sidjanin, D.J.

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Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice by Park, Anna Kyunglim, Liegel, Ryan P, Ronchetti, Adam, Ebert, Allison D, Geurts, Aron, Sidjanin, Duska J

“…Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain,…”
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Targeted disruption of Tbc1d20with zinc-finger nucleases causes cataracts and testicular abnormalities in mice by Park, Anna Kyunglim, Liegel, Ryan P, Ronchetti, Adam, Ebert, Allison D, Geurts, Aron, Sidjanin, Duska J

“…Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain,…”
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