未登录Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive致病性GABRA3变异的功能后果决定了X连锁遗传是显性还是隐性
Johannesen, Katrine M.; Aung, Khaing Phyu; Liao, Vivian W. Y.; Absalom, Nathan; Chua, Han C.; Gan, Xue N.; Mao, Miaomiao; McKenzie, Chaseley E.; Lee, Hian M.; Ortiz, Sebastian; Spillmann, Rebecca C.; Shashi, Vandana; Radtke, Rodney A.; Mirzaa, Ghayda M.; Weisner, P. Anne; Daboub, Josue Flores; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid M. B. H.; van Slegtenhorst, Marjon A.; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K.; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M.; Kruer, Michael C.; Bisarad, Pritha; Galaz-Montoya, Carolina I.; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C.; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F.; Scheffer, Ingrid E.; Chebib, Mary; Rubboli, Guido; Moller, Rikke S.; Reid, Christopher A.; Ahring, Philip K. .png)
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收藏分享 收藏 Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)Riedhammer, Korbinian M.; Nguyen, Thanh-Minh T.; Kosukcu, Can; Calzada-Wack, Julia; Li, Yong; Batzir, Nurit Assia; Saygili, Seha; Wimmers, Vera; Kim, Gwang-Jin; Chrysanthou, Marialena; Bakey, Zeineb; Sofrin-Drucker, Efrat; Kraiger, Markus; Sanz-Moreno, Adrian; Amarie, Oana V.; Rathkolb, Birgit; Klein-Rodewald, Tanja; Garrett, Lillian; Hoelter, Sabine M.; Seisenberger, Claudia; Haug, Stefan; Schlosser, Pascal; Marschall, Susan; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; Wuttke, Matthias; de Angelis, Martin Hrabe; Comic, Jasmina; Dogan, Ozlem Akgun; Ozluk, Yasemin; Tasdemir, Mehmet; Agbas, Ayse; Canpolat, Nur; Orenstein, Naama; Caliskan, Salim; Weber, Ruthild G.; Bergmann, Carsten; Jeanpierre, Cecile; Saunier, Sophie; Lim, Tze Y.; Hildebrandt, Friedhelm; Alhaddad, Bader; Basel-Salmon, Lina; Borovitz, Yael; Wu, Kaman; Antony, Dinu; Matschkal, Julia; Schaaf, Christian W.; Renders, Lutz; Schmaderer, Christoph; Rogg, Manuel; Schell, Christoph; Meitinger, Thomas; Heemann, Uwe; Koettgen, Anna; Arnold, Sebastian J.; Ozaltin, Fatih; Schmidts, Miriam; Hoefele, Julia 分享 收藏 Biallelic variants in SLC4A10 encoding a sodiumdependent bicarbonate transporter lead to a neurodevelopmental disorder编码钠依赖性碳酸氢盐转运蛋白的SLC4A10中的双等位基因变体导致神经发育障碍Maroofian, Reza; Zamani, Mina; Kaiyrzhanov, Rauan; Liebmann, Lutz; Karimiani, Ehsan Ghayoor; Vona, Barbara; Huebner, Antje K.; Calame, Daniel G.; Misra, Vinod K.; Sadeghian, Saeid; Azizimalamiri, Reza; Mohammadi, Mohammad Hasan; Zeighami, Jawaher; Heydaran, Sogand; Toosi, Mehran Beiraghi; Akhondian, Javad; Babaei, Meisam; Hashemi, Narges; Schnur, Rhonda E.; Suri, Mohnish; Setzke, Jonas; Wagner, Matias; Brunet, Theresa; Grochowski, Christopher M.; Emrick, Lisa; Chung, Wendy K.; Hellmich, Ute A.; Schmidts, Miriam; Lupski, James R.; Galehdari, Hamid; Severino, Mariasavina; Houlden, Henry; Huebner, Christian A. 分享 收藏 Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disordersKaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W.; Godwin, Annie; Zaki, Maha S.; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A.; Rudnik-Schoeneborn, Sabine; Schatz, Ulrich A.; Baggelaar, Marc P.; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Basto, Jorge Pinto; Kortuem, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A.; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenco, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W.; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R.; Zaman, Mashaya; Schrader, Tina A.; Chung, Wendy K.; Guerrini, Renzo; Lupski, James R.; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P.; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W.; Varshney, Gaurav K.; Houlden, Henry; Maroofian, Reza 分享 收藏 Emerging principles of primary cilia dynamics in controlling tissue organization and functionGopalakrishnan, Jay; Feistel, Kerstin; Friedrich, Benjamin M.; Grapin-Botton, Anne; Jurisch-Yaksi, Nathalie; Mass, Elvira; Mick, David U.; Mueller, Roman-Ulrich; May-Simera, Helen; Schermer, Bernhard; Schmidts, Miriam; Walentek, Peter; Wachten, Dagmar 分享 收藏 IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansIFT74变体导致小鼠和人类的骨骼纤毛病和运动纤毛缺陷Bakey, Zeineb; Cabrera, Oscar A.; Hoefele, Julia; Antony, Dinu; Wu, Kaman; Stuck, Michael W.; Micha, Dimitra; Eguether, Thibaut; Smith, Abigail O.; van der Wel, Nicole N.; Wagner, Matias; Strittmatter, Lara; Beales, Philip L.; Jonassen, Julie A.; Thiffault, Isabelle; Cadieux-Dion, Maxime; Boyes, Laura; Sharif, Saba; Tuysuz, Beyhan; Dunstheimer, Desiree; Niessen, Hans W. M.; Devine, William; Lo, Cecilia W.; Mitchison, Hannah M.; Schmidts, Miriam; Pazour, Gregory J. 分享 收藏 Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine配对代谢组的遗传研究揭示了血浆和尿液界面的酶促和转运过程Schlosser, Pascal; Scherer, Nora; Grundner-Culemann, Franziska; Monteiro-Martins, Sara; Haug, Stefan; Steinbrenner, Inga; Uluvar, Burulca; Wuttke, Matthias; Cheng, Yurong; Ekici, Arif B.; Gyimesi, Gergely; Karoly, Edward D.; Kotsis, Fruzsina; Mielke, Johanna; Gomez, Maria F.; Yu, Bing; Grams, Morgan E.; Coresh, Josef; Boerwinkle, Eric; Koettgen, Michael; Kronenberg, Florian; Meiselbach, Heike; Mohney, Robert P.; Akilesh, Shreeram; Schmidts, Miriam; Hediger, Matthias A.; Schultheiss, Ulla T.; Eckardt, Kai-Uwe; Oefner, Peter J.; Sekula, Peggy; Li, Yong; Koettgen, Anna 分享 收藏 Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signalingHuber, TB; Hartleben, B; Kim, J; Schmidts, M; Schermer, B; Keil, A; Egger, L; Lecha, RL; Borner, C; Pavenstädt, H; Shaw, AS; Walz, G; Benzing, T 分享 收藏 分享 收藏 De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypesScala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C.; Wessels, Marja W.; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A.; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margherita; Balagura, Ganna; Galloni, Giovanni Battista; Verrotti, Alberto; Umair, Muhammad; Khan, Amjad; Liebelt, Jan; Schmidts, Miriam; Langer, Thorsten; Brusco, Alfredo; Lipska-Zietkiewicz, Beata S.; Saris, Jasper J.; Charlet-Berguerand, Nicolas; Zara, Federico; Striano, Pasquale; Piton, Amelie 分享 收藏 Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndromeRad, Aboulfazl; Najafi, Maryam; Suri, Fatemeh; Abedini, Soheila; Loum, Stephen; Karimiani, Ehsan Ghayoor; Daftarian, Narsis; Murphy, David; Doosti, Mohammad; Moghaddasi, Afrooz; Ahmadieh, Hamid; Sabbaghi, Hamideh; Rajati, Mohsen; Hashemi, Narges; Vona, Barbara; Schmidts, Miriam 分享 收藏 Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism (vol 12, 964, 2021)Cheng, Yurong; Schlosser, Pascal; Hertel, Johannes; Sekula, Peggy; Oefner, Peter J.; Spiekerkoetter, Ute; Mielke, Johanna; Freitag, Daniel F.; Schmidts, Miriam; Kronenberg, Florian; Eckardt, Kai-Uwe; Thiele, Ines; Li, Yong; Koettgen, Anna 分享 收藏 分享 收藏 分享 收藏 Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingSanderson, Leslie E.; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A.; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C.; Nikoncuk, Anita; Kuhn, Nikolas A.; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Dalla Rosa Vieira, Luana Gabriela; Mombach, Romulo; Ahangari, Najmeh; Damaceno Silveira, Taina Regina; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M.; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A.; Binhumaid, Faisal S.; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M.; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A. Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A.; Karimiani, Ehsan Ghayoor; Meyer, Brian F.; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T.; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida M.; Schmidts, Miriam; Barakat, Tahsin Stefan; van Ham, Tjakko J.; Kaya, Namik 分享 收藏 Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism影响尿液代谢物水平的罕见遗传变异将种群变异与先天性代谢错误联系起来Cheng, Yurong; Schlosser, Pascal; Hertel, Johannes; Sekula, Peggy; Oefner, Peter J.; Spiekerkoetter, Ute; Mielke, Johanna; Freitag, Daniel F.; Schmidts, Miriam; Kronenberg, Florian; Eckardt, Kai-Uwe; Thiele, Ines; Li, Yong; Koettgen, Anna 分享 收藏 Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeCBY1的丢失导致以Joubert综合征为特征的纤毛病Epting, Daniel; Senaratne, Lokuliyange D. S.; Ott, Elisabeth; Holmgren, Asbjorn; Sumathipala, Dulika; Larsen, Selma M.; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari-Anne M.; Crowley, Suzanne; Sikiric, Alma; Baroy, Tuva; Kasmann-Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine; Patzke, Sebastian; Phelps, Ian G.; Katsanis, Nicholas; Giles, Rachel; Schmidts, Miriam; Zucknick, Manuela; Lienkamp, Soeren S.; Omran, Heymut; Davis, Erica E.; Doherty, Dan; Stromme, Petter; Frengen, Eirik; Bergmann, Carsten; Misceo, Doriana 分享 收藏 分享 收藏 Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyChatron, Nicolas; Becker, Felicitas; Morsy, Heba; Schmidts, Miriam; Hardies, Katia; Tuysuz, Beyhan; Roselli, Sandra; Najafi, Maryam; Alkaya, Dilek Uludag; Ashrafzadeh, Farah; Nabil, Amira; Omar, Tarek; Maroofian, Reza; Karimiani, Ehsan Ghayoor; Hussien, Haytham; Kok, Fernando; Ramos, Luiza; Gunes, Nilay; Bilguvar, Kaya; Labalme, Audrey; Alix, Eudeline; Sanlaville, Damien; de Bellescize, Julitta; Poulat, Anne-Lise; Moslemi, Ali-Reza; Lerche, Holger; May, Patrick; Lesca, Gaetan; Weckhuysen, Sarah; Tajsharghi, Homa 分享 收藏 
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