Search Results - "Loh, Abigail"

Application of a bespoke monoclonal antibody panel to characterize immune cell populations in cave nectar bats by Chen, Shiwei, Sia, Wan Rong, Tang, Leon J.W., Gamage, Akshamal M., Chan, Wharton O.Y., Zhu, Feng, Chia, Wanni, Kwek, Madeline S.S., Kong, Pui San, Lim, Beng Lee, Foo, Randy, Ng, Wei Lun, Tan, Adrian H.J., He, Shan, Loh, Abigail Y.T., Low, Dolyce H.W., Smith, Gavin J.D., Hong, Lewis Z., Wang, Lin-Fa

“…Among their many unique biological features, bats are increasingly recognized as a key reservoir of many emerging viruses that cause massive morbidity and…”
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Application of a bespoke monoclonal antibody panel to characterize immune cell populations in cave nectar bats by Chen, Shiwei, Sia, Wan Rong, Tang, Leon J.W., Gamage, Akshamal M., Chan, Wharton O.Y., Zhu, Feng, Chia, Wanni, Kwek, Madeline S.S., Kong, Pui San, Lim, Beng Lee, Foo, Randy, Ng, Wei Lun, Tan, Adrian H.J., He, Shan, Loh, Abigail Y.T., Low, Dolyce H.W., Smith, Gavin J.D., Hong, Lewis Z., Wang, Lin-Fa

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Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome by Loh, Abigail Y. T., Špoljar, Sanja, Neo, Granville Y. W., Escande‐Beillard, Nathalie, Leushacke, Marc, Luijten, Monique N. H., Venkatesh, Byrappa, Bonnard, Carine, Steensel, Maurice A. M., Hamm, Henning, Carmichael, Andrew, Rajan, Neil, Carney, Thomas J., Reversade, Bruno

“…Huriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and…”
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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology by Elouej, Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

“…Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction…”
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Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa by Fischer-Zirnsak, Björn, Escande-Beillard, Nathalie, Ganesh, Jaya, Tan, Yu Xuan, Al Bughaili, Mohammed, Lin, Angela E., Sahai, Inderneel, Bahena, Paulina, Reichert, Sara L., Loh, Abigail, Wright, Graham D., Liu, Jaron, Rahikkala, Elisa, Pivnick, Eniko K., Choudhri, Asim F., Krüger, Ulrike, Zemojtel, Tomasz, van Ravenswaaij-Arts, Conny, Mostafavi, Roya, Stolte-Dijkstra, Irene, Symoens, Sofie, Pajunen, Leila, Al-Gazali, Lihadh, Meierhofer, David, Robinson, Peter N., Mundlos, Stefan, Villarroel, Camilo E., Byers, Peter, Masri, Amira, Robertson, Stephen P., Schwarze, Ulrike, Callewaert, Bert, Reversade, Bruno, Kornak, Uwe

“…Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by…”
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Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica by Kariminejad, Ariana, Afroozan, Fariba, Bozorgmehr, Bita, Ghanadan, Alireza, Akbaroghli, Susan, Khorram Khorshid, Hamid Reza, Mojahedi, Faezeh, Setoodeh, Aria, Loh, Abigail, Tan, Yu Xuan, Escande-Beillard, Nathalie, Malfait, Fransiska, Reversade, Bruno, Gardeitchik, Thatjana, Morava, Eva

“…Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can…”
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Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology by Elouej, Sahar, Harhouri, Karim, Mao, Morgane Le, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis by Wong, Samantha, Tan, Yu Xuan, Loh, Abigail Yi Ting, Tan, Kiat Yi, Lee, Hane, Aziz, Zainab, Nelson, Stanley F, Özkan, Engin, Kayserili, Hülya, Escande‐Beillard, Nathalie, Reversade, Bruno

“…Somatic and germline gain‐of‐function point mutations in RAF, one of the first oncogenes to be discovered in humans, delineate a group of tumor‐prone syndromes…”
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Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesis by Ding, Zhaobing, Ericksen, Russell E., Escande-Beillard, Nathalie, Lee, Qian Yi, Loh, Abigail, Denil, Simon, Steckel, Michael, Haegebarth, Andrea, Wai Ho, Timothy Shen, Chow, Pierce, Toh, Han Chong, Reversade, Bruno, Gruenewald, Sylvia, Han, Weiping

“…Under the regulation of various oncogenic pathways, cancer cells undergo adaptive metabolic programming to maintain specific metabolic states that support…”
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Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism by Kwon, Hyuk Nam, Kurtzeborn, Kristen, Iaroshenko, Vladislav, Jin, Xing, Loh, Abigail, Escande-Beillard, Nathalie, Reversade, Bruno, Park, Sunghyouk, Kuure, Satu

“…Nephron endowment is defined by fetal kidney growth and crucially dictates renal health in adults. Defects in the molecular regulation of nephron progenitors…”
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Education of medical students in child and adolescent psychiatry by Lui, Yit Shiang, Loh, Abigail HY, Chee, Tji Tjian, Teng, Jia Ying, Wong, John Chee Meng, Wong, Celine Hsia Jia

“…Introduction: A good understanding of basic child-and-adolescent psychiatry (CAP) is important for general medical practice. The undergraduate psychiatry…”
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Improving mother-infant bonding in postnatal depression − The SURE MUMS study by Loh, Abigail Hong Yan, Ong, Li Lian, Yong, Flora Su Hui, Chen, Helen Yu

“…To study the effectiveness of the Sure Mums intervention in improving mother-baby bonding in a group of new mothers in Singapore. Over a period of 2 years from…”
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Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2 by Escande-Beillard, Nathalie, Loh, Abigail, Saleem, Sahar N., Kanata, Kohei, Hashimoto, Yui, Altunoglu, Umut, Metoska, Artina, Grandjean, Joanes, Ng, Fui Mee, Pomp, Oz, Baburajendran, Nithya, Wong, Joyner, Hill, Jeffrey, Beillard, Emmanuel, Cozzone, Patrick, Zaki, Maha, Kayserili, Hülya, Hamada, Hiroshi, Shiratori, Hidetaka, Reversade, Bruno

“…Patients lacking PYCR2, a mitochondrial enzyme that synthesizes proline, display postnatal degenerative microcephaly with hypomyelination. Here we report the…”
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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy by Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y.T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Uğurlu Çi̇men, Deniz, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Ly, Thanh Thao Nguyen, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., Reversade, Bruno

“…Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a…”
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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy by Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y.T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Çïmen, Deniz Uğurlu, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Nguyen Ly, Thanh Thao, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., Reversade, Bruno

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PYCR2 Protects from Neurodegeneration by Controlling Oligodendrocyte Maturation and Glycinemia through SHMT2 by Escande-Beillard, Nathalie, Kanata, Kohei, Loh, Abigail, Altunoglu, Umut, Pomp, Oz, Metoska, Artina, Grandjean, Joanes, Sotiroupoulou, Kortessa, Ng, Fui Mee, Wong, Joyner, Jansson, Anna Elisabet, Hill, Jeffrey, Cozzone, Patrick, Kayserili, Hülya, Hiroshi, Hamada, Shiratori, Hidetaka, Reversade, Bruno

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