Search Results - "Maas, Richard L"

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis by Coste, Bertrand, Houge, Gunnar, Murray, Michael F., Stitziel, Nathan, Bandell, Michael, Giovanni, Monica A., Philippakis, Anthony, Hoischen, Alexander, Riemer, Gunnar, Steen, Unni, Steen, Vidar Martin, Mathur, Jayanti, Cox, James, Lebo, Matthew, Rehm, Heidi, Weiss, Scott T., Wood, John N., Maas, Richard L., Sunyaev, Shamil R., Patapoutian, Ardem

“…Mechanotransduction, the pathway by which mechanical forces are translated to biological signals, plays important but poorly characterized roles in physiology…”
Get full text

Exhaustion of Racing Sperm in Nature-Mimicking Microfluidic Channels During Sorting by Tasoglu, Savas, Safaee, Hooman, Zhang, Xiaohui, Kingsley, James L., Catalano, Paolo N., Gurkan, Umut Atakan, Nureddin, Aida, Kayaalp, Emre, Anchan, Raymond M., Maas, Richard L., Tüzel, Erkan, Demirci, Utkan

“…Fertilization is central to the survival and propagation of a species, however, the precise mechanisms that regulate the sperm's journey to the egg are not…”
Get full text

Vitrification and levitation of a liquid droplet on liquid nitrogen by Song, Young S, Adler, Douglas, Xu, Feng, Kayaalp, Emre, Nureddin, Aida, Anchan, Raymond M, Maas, Richard L, Demirci, Utkan

“…The vitrification of a liquid occurs when ice crystal formation is prevented in the cryogenic environment through ultrarapid cooling. In general, vitrification…”
Get full text

ALX1‐related frontonasal dysplasia results from defective neural crest cell development and migration by Pini, Jonathan, Kueper, Janina, Hu, Yiyuan David, Kawasaki, Kenta, Yeung, Pan, Tsimbal, Casey, Yoon, Baul, Carmichael, Nikkola, Maas, Richard L, Cotney, Justin, Grinblat, Yevgenya, Liao, Eric C

“…A pedigree of subjects presented with frontonasal dysplasia (FND). Genome sequencing and analysis identified a p.L165F missense variant in the homeodomain of…”
Get full text

Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood by Wang, Xiu-Ping, O'Connell, Daniel J, Lund, Jennifer J, Saadi, Irfan, Kuraguchi, Mari, Turbe-Doan, Annick, Cavallesco, Resy, Kim, Hyunsoo, Park, Peter J, Harada, Hidemitsu, Kucherlapati, Raju, Maas, Richard L

“…The ablation of Apc function or the constitutive activation ofβ -catenin in embryonic mouse oral epithelium results in supernumerary tooth formation, but the…”
Get full text

Precise temporal control of the eye regulatory gene Pax6 via enhancer-binding site affinity by Rowan, Sheldon, Siggers, Trevor, Lachke, Salil A, Yue, Yingzi, Bulyk, Martha L, Maas, Richard L

“…How transcription factors interpret the cis-regulatory logic encoded within enhancers to mediate quantitative changes in spatiotemporally restricted expression…”
Get full text

Resolving stem and progenitor cells in the adult mouse incisor through gene co-expression analysis by Seidel, Kerstin, Marangoni, Pauline, Tang, Cynthia, Houshmand, Bahar, Du, Wen, Maas, Richard L, Murray, Steven, Oldham, Michael C, Klein, Ophir D

“…Investigations into stem cell-fueled renewal of an organ benefit from an inventory of cell type-specific markers and a deep understanding of the cellular…”
Get full text

Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis by Nakatomi, Mitsushiro, Wang, Xiu-Ping, Key, Darren, Lund, Jennifer J., Turbe-Doan, Annick, Kist, Ralf, Aw, Andrew, Chen, Yiping, Maas, Richard L., Peters, Heiko

“…Developmental abnormalities of craniofacial structures and teeth often occur sporadically and the underlying genetic defects are not well understood, in part…”
Get full text

Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma by Lachke, Salil A., Alkuraya, Fowzan S., Kneeland, Stephen C., Ohn, Takbum, Aboukhalil, Anton, Howell, Gareth R., Saadi, Irfan, Cavallesco, Resy, Yue, Yingzi, Tsai, Anne C-H., Nair, K. Saidas, Cosma, Mihai I., Smith, Richard S., Hodges, Emily, AlFadhli, Suad M., Al-Hajeri, Amal, Shamseldin, Hanan E., Behbehani, AbdulMutalib, Hannon, Gregory J., Bulyk, Martha L., Drack, Arlene V., Anderson, Paul J., John, Simon W. M., Maas, Richard L.

“…The precise transcriptional regulation of gene expression is essential for vertebrate development, but the role of posttranscriptional regulatory mechanisms is…”
Get full text

ALX1‐related frontonasal dysplasia results from defective neural crest cell development and migration by Pini, Jonathan, Kueper, Janina, Hu, Yiyuan David, Kawasaki, Kenta, Yeung, Pan, Tsimbal, Casey, Yoon, Baul, Carmichael, Nikkola, Maas, Richard L, Cotney, Justin, Grinblat, Yevgenya, Liao, Eric C

Get full text

Transcription Factor PAX6 (Paired Box 6) Controls Limbal Stem Cell Lineage in Development and Disease by Li, Gen, Xu, Fan, Zhu, Jie, Krawczyk, Michal, Zhang, Ying, Yuan, Jin, Patel, Sherrinal, Wang, Yujuan, Lin, Ying, Zhang, Ming, Cai, Huimin, Chen, Daniel, Zhang, Meixia, Cao, Guiqun, Yeh, Emily, Lin, Danni, Su, Qiao, Li, Wen-wen, Sen, George L., Afshari, Natalie, Chen, Shaochen, Maas, Richard L., Fu, Xiang-Dong, Zhang, Kang, Liu, Yizhi, Ouyang, Hong

“…PAX6 is a master regulatory gene involved in neuronal cell fate specification. It also plays a critical role in early eye field and subsequent limbal stem cell…”
Get full text

An integrated gene regulatory network controls stem cell proliferation in teeth by Wang, Xiu-Ping, Suomalainen, Marika, Felszeghy, Szabolcs, Zelarayan, Laura C, Alonso, Maria T, Plikus, Maksim V, Maas, Richard L, Chuong, Cheng-Ming, Schimmang, Thomas, Thesleff, Irma

“…Epithelial stem cells reside in specific niches that regulate their self-renewal and differentiation, and are responsible for the continuous regeneration of…”
Get full text

Sox2 and Pou2f1 interact to control lens and olfactory placode development by Donner, Amy L., Episkopou, Vasso, Maas, Richard L.

“…Sox2, which encodes an SRY-like HMG box transcription factor, is critical for vertebrate development. Sox2 mediates its transcriptional effects through the…”
Get full text

Crim1 regulates integrin signaling in murine lens development by Zhang, Ying, Fan, Jieqing, Ho, Joshua W K, Hu, Tommy, Kneeland, Stephen C, Fan, Xueping, Xi, Qiongchao, Sellarole, Michael A, de Vries, Wilhelmine N, Lu, Weining, Lachke, Salil A, Lang, Richard A, John, Simon W M, Maas, Richard L

“…The developing lens is a powerful system for investigating the molecular basis of inductive tissue interactions and for studying cataract, the leading cause of…”
Get full text

Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease by Rasouly, Hila Milo, Kumar, Sudhir, Chan, Stefanie, Pisarek-Horowitz, Anna, Sharma, Richa, Xi, Qiongchao J, Nishizaki, Yuriko, Higashi, Yujiro, Salant, David J, Maas, Richard L, Lu, Weining

“…Primary glomerulocystic kidney disease is a special form of renal cystic disorder characterized by Bowman's space dilatation in the absence of tubular cysts…”
Get more information

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting by Saadi, Irfan, Alkuraya, Fowzan S., Gisselbrecht, Stephen S., Goessling, Wolfram, Cavallesco, Resy, Turbe-Doan, Annick, Petrin, Aline L., Harris, James, Siddiqui, Ursela, Grix, Arthur W., Hove, Hanne D., Leboulch, Philippe, Glover, Thomas W., Morton, Cynthia C., Richieri-Costa, Antonio, Murray, Jeffrey C., Erickson, Robert P., Maas, Richard L.

“…Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function…”
Get full text

Roles of the 15-kDa Selenoprotein (Sep15) in Redox Homeostasis and Cataract Development Revealed by the Analysis of Sep 15 Knockout Mice by Kasaikina, Marina V., Fomenko, Dmitri E., Labunskyy, Vyacheslav M., Lachke, Salil A., Qiu, Wenya, Moncaster, Juliet A., Zhang, Jie, Wojnarowicz, Mark W., Natarajan, Sathish Kumar, Malinouski, Mikalai, Schweizer, Ulrich, Tsuji, Petra A., Carlson, Bradley A., Maas, Richard L., Lou, Marjorie F., Goldstein, Lee E., Hatfield, Dolph L., Gladyshev, Vadim N.

“…The 15-kDa selenoprotein (Sep15) is a thioredoxin-like, endoplasmic reticulum-resident protein involved in the quality control of glycoprotein folding through…”
Get full text

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations by Faden, Maha, AlZahrani, Fatema, Mendoza-Londono, Roberto, Dupuis, Lucie, Hartley, Taila, Kannu, Peter, Raiman, Julian A., Howard, Andrew, Qin, Wen, Tetreault, Martine, Xi, Joan Qiongchao, Al-Thamer, Imadeddin, Maas, Richard L., Boycott, Kym, Alkuraya, Fowzan S.

“…Skeletal dysplasias are highly variable Mendelian phenotypes. Molecular diagnosis of skeletal dysplasias is complicated by their extreme clinical and genetic…”
Get full text

A Wnt-bmp feedback circuit controls intertissue signaling dynamics in tooth organogenesis by O'Connell, Daniel J, Ho, Joshua W K, Mammoto, Tadanori, Turbe-Doan, Annick, O'Connell, Joyce T, Haseley, Psalm S, Koo, Samuel, Kamiya, Nobuhiro, Ingber, Donald E, Park, Peter J, Maas, Richard L

“…Many vertebrate organs form through the sequential and reciprocal exchange of signaling molecules between juxtaposed epithelial and mesenchymal tissues. We…”
Get more information

Notch signaling regulates growth and differentiation in the mammalian lens by Rowan, Sheldon, Conley, Kevin W., Le, Tien T., Donner, Amy L., Maas, Richard L., Brown, Nadean L.

“…The Notch signal transduction pathway regulates the decision to proliferate versus differentiate. Although there are a myriad of mouse models for the Notch…”
Get full text