Search Results - "Ng, Alvin Yu‐Jin"

Compound in‐cis JAK2 mutant polycythemia vera manifesting as first‐onset transient ischemic attack with erythrocytosis and an attenuated JAK2 V617F mutant signal on a quantitative DD‐PCR assay by Ng, Isaac K. S., Lee, Peak‐Ling, Ng, Li Jie, Chua, Rui Ping, Ng, Yu‐Jin Alvin, Lee, Chun Kiat, Tan, Jun Guan, Chan, Tim Hon Man, Yan, Benedict, Prasad, Vishnu

Get full text

Genome scale analysis of diffusible signal factor regulon in Xanthomonas campestris pv. campestris: identification of novel cell–cell communication‐dependent genes and functions by He, Ya‐Wen, Xu, Min, Lin, Kui, Ng, Yu‐Jin Alvin, Wen, Chao‐Ming, Wang, Lian‐Hui, Liu, Zi‐Duo, Zhang, Hai‐Bao, Dong, Yi‐Hu, Dow, J. Maxwell, Zhang, Lian‐Hui

“…Summary The bacterial pathogen Xanthomonas campestris pv. campestris (Xcc) recruits a diffusible signal factor (DSF), which has recently been structurally…”
Get full text

Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates by Szenker-Ravi, Emmanuelle, Ott, Tim, Khatoo, Muznah, Moreau de Bellaing, Anne, Goh, Wei Xuan, Chong, Yan Ling, Beckers, Anja, Kannesan, Darshini, Louvel, Guillaume, Anujan, Priyanka, Ravi, Vydianathan, Bonnard, Carine, Moutton, Sébastien, Schoen, Patric, Fradin, Mélanie, Colin, Estelle, Megarbane, André, Daou, Linda, Chehab, Ghassan, Di Filippo, Sylvie, Rooryck, Caroline, Deleuze, Jean-François, Boland, Anne, Arribard, Nicolas, Eker, Rukiye, Tohari, Sumanty, Ng, Alvin Yu-Jin, Rio, Marlène, Lim, Chun Teck, Eisenhaber, Birgit, Eisenhaber, Frank, Venkatesh, Byrappa, Amiel, Jeanne, Crollius, Hugues Roest, Gordon, Christopher T., Gossler, Achim, Roy, Sudipto, Attie-Bitach, Tania, Blum, Martin, Bouvagnet, Patrice, Reversade, Bruno

“…The vertebrate left–right axis is specified during embryogenesis by a transient organ: the left–right organizer (LRO). Species including fish, amphibians,…”
Get full text

Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population by Foo, Claribel Tian Yu, To, Yi Hui, Irwanto, Astrid, Ng, Alvin Yu-Jin, Yan, Benedict, Chew, Sophia Tsong Huey, Liu, Jianjun, Ti, Lian Kah

“…The RYR1 gene codes for a ryanodine receptor which is a calcium release channel in the skeletal muscle sarcoplasmic reticulum. It is associated with Malignant…”
Get full text

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management by Bhatia, Neha S, Lim, Jiin Ying, Bonnard, Carine, Kuan, Jyn-Ling, Brett, Maggie, Wei, Heming, Cham, Breana, Chin, Huilin, Bosso-Lefevre, Celia, Dharuman, Perumal, Escande-Beillard, Nathalie, Devasia, Arun George, Goh, Chew Yin Jasmine, Kam, Sylvia, Liew, Wendy Kein-Meng, Liew, Woei Kang, Lin, Grace, Jain, Kanika, Ng, Alvin Yu-Jin, Subramanian, Deepa, Xie, Min, Tan, Yuen-Ming, Tawari, Nilesh R, Tiang, Zenia, Ting, Teck Wah, Tohari, Sumanty, Tong, Cheuk Ka, Lezhava, Alexander, Ng, Sarah B, Law, Hai Yang, Venkatesh, Byrappa, Tomar, Swati, Sethi, Raman, Tan, Grace, Shanmugasundaram, Arthi, Goh, Denise Li-Meng, Lai, Poh San, Lai, Angeline, Tan, Ee Shien, Ng, Ivy, Reversades, Bruno, Tan, Ene Choo, Foo, Roger, Jamuar, Saumya Shekhar

“…ObjectiveUse next-generation sequencing (NGS) technology to improve our diagnostic yield in patients with suspected genetic disorders in the Asian…”
Get full text

Xanthomonas campestris cell-cell communication involves a putative nucleotide receptor protein Clp and a hierarchical signalling network by He, Ya-Wen, Ng, Alvin Yu-Jin, Xu, Min, Lin, Kui, Wang, Lian-Hui, Dong, Yi-Hu, Zhang, Lian-Hui

“…The bacterial pathogen Xanthomonas campestris pv. campestris co-ordinates virulence factor production and biofilm dispersal through a diffusible signal factor…”
Get full text

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling by Bonnard, Carine, Navaratnam, Naveenan, Ghosh, Kakaly, Chan, Puck Wee, Tan, Thong Teck, Pomp, Oz, Ng, Alvin Yu Jin, Tohari, Sumanty, Changede, Rishita, Carling, David, Venkatesh, Byrappa, Altunoglu, Umut, Kayserili, Hülya, Reversade, Bruno

“…Failure of neural tube closure during embryonic development can result in anencephaly, one of the most common birth defects in humans. A family with recurrent…”
Get full text

A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy by Lao, Zhentang, Ding, Ling-Wen, Sun, Qiao-Yang, Jia, Li, Yan, Benedict, Ng, Alvin Yu-Jin, Capinpin, Sharah Mae, Wang, Renwei, Ying, Li, Chng, Wee Joo, Koeffler, H Phillip, Koh, Woon-Puay, Yuan, Jian-Min, Yang, Henry, Goh, Yeow Tee, Grigoropoulos, Nicholas

“…DNA methylation alterations are widespread in acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS), some of which appear to have evolved…”
Get full text

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein by Khabou, Boudour, Sahari, Umar Bin Mohamad, ben Issa, Abir, Bouchaala, Wafa, Szenker-Ravi, Emmanuelle, Yu Jin Ng, Alvin, Bonnard, Carine, Mbarek, Hamdi, Zeyaul, Islam, Fakhfakh, Faiza, Kammoun, Fatma, Reversade, Bruno, Charfi Triki, Chahnez

“…The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing methods…”
Get full text

Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells by Xu, Xiaohong, Tay, Yilin, Sim, Bernice, Yoon, Su-In, Huang, Yihui, Ooi, Jolene, Utami, Kagistia Hana, Ziaei, Amin, Ng, Bryan, Radulescu, Carola, Low, Donovan, Ng, Alvin Yu Jin, Loh, Marie, Venkatesh, Byrappa, Ginhoux, Florent, Augustine, George J., Pouladi, Mahmoud A.

“…Huntington disease (HD) is a dominant neurodegenerative disorder caused by a CAG repeat expansion in HTT. Here we report correction of HD human induced…”
Get full text

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish by Derrick, Christopher J, Szenker-Ravi, Emmanuelle, Santos-Ledo, Adrian, Alqahtani, Ahlam, Yusof, Amirah, Eley, Lorraine, Coleman, Alistair H L, Tohari, Sumanty, Ng, Alvin Yu-Jin, Venkatesh, Byrappa, Alharby, Essa, Mansard, Luke, Bonnet-Dupeyron, Marie-Noelle, Roux, Anne-Francoise, Vaché, Christel, Roume, Joëlle, Bouvagnet, Patrice, Almontashiri, Naif A M, Henderson, Deborah J, Reversade, Bruno, Chaudhry, Bill

“…Abstract Developmental studies have shown that the evolutionarily conserved Wnt Planar Cell Polarity (PCP) pathway is essential for the development of a…”
Get full text

Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome? by Koh, Ai Ling, Bonnard, Carine, Lim, Jiin Ying, Liew, Woei Kang, Thoon, Koh Cheng, Thomas, Terrence, Ali, Nur Ain Binte, Ng, Alvin Yu Jin, Tohari, Sumanty, Phua, Kong Boo, Venkatesh, Byrappa, Reversade, Bruno, Jamuar, Saumya Shekhar

“…Shwachman–Diamond syndrome (SDS) is a rare multisystem ribosomal biogenesis disorder characterized by exocrine pancreatic insufficiency, hematologic…”
Get full text

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita by Xue, Shifeng, Maluenda, Jérôme, Marguet, Florent, Shboul, Mohammad, Quevarec, Loïc, Bonnard, Carine, Ng, Alvin Yu Jin, Tohari, Sumanty, Tan, Thong Teck, Kong, Mung Kei, Monaghan, Kristin G., Cho, Megan T., Siskind, Carly E., Sampson, Jacinda B., Rocha, Carolina Tesi, Alkazaleh, Fawaz, Gonzales, Marie, Rigonnot, Luc, Whalen, Sandra, Gut, Marta, Gut, Ivo, Bucourt, Martine, Venkatesh, Byrappa, Laquerrière, Annie, Reversade, Bruno, Melki, Judith

“…Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal…”
Get full text

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly by Hettiaracchchi, Dineshani, Bonnard, Carine, Jayawardana, S M A, Ng, Alvin Yu Jin, Tohari, Sumanty, Venkatesh, Byrappa, Reversade, Bruno, Singaraja, Roshni, Dissanayake, V H W

“…Cenani-Lenz Syndactyly (CLS) syndrome is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes, disorganization…”
Get full text

Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features by Ziaei, Amin, Xu, Xiaohong, Dehghani, Leila, Bonnard, Carine, Zellner, Andreas, Jin Ng, Alvin Yu, Tohari, Sumanty, Venkatesh, Byrappa, Haffner, Christof, Reversade, Bruno, Shaygannejad, Vahid, Pouladi, Mahmoud A

“…To investigate the possible involvement of germline mutations in a neurologic condition involving diffuse white matter lesions. The patients were 3 siblings…”
Get full text

BARP suppresses voltage-gated calcium channel activity and Ca2+-evoked exocytosis by Béguin, Pascal, Nagashima, Kazuaki, Mahalakshmi, Ramasubbu N, Vigot, Réjan, Matsunaga, Atsuko, Miki, Takafumi, Ng, Mei Yong, Ng, Yu Jin Alvin, Lim, Chiaw Hwee, Tay, Hock Soon, Hwang, Le-Ann, Firsov, Dmitri, Tang, Bor Luen, Inagaki, Nobuya, Mori, Yasuo, Seino, Susumu, Launey, Thomas, Hunziker, Walter

“…Voltage-gated calcium channels (VGCCs) are key regulators of cell signaling and Ca(2+)-dependent release of neurotransmitters and hormones. Understanding the…”
Get full text

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome by Oud, Machteld M, Bonnard, Carine, Mans, Dorus A, Altunoglu, Umut, Tohari, Sumanty, Ng, Alvin Yu Jin, Eskin, Ascia, Lee, Hane, Rupar, C Anthony, de Wagenaar, Nathalie P, Wu, Ka Man, Lahiry, Piya, Pazour, Gregory J, Nelson, Stanley F, Hegele, Robert A, Roepman, Ronald, Kayserili, Hülya, Venkatesh, Byrappa, Siu, Victoria M, Reversade, Bruno, Arts, Heleen H

“…Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant…”
Get full text

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change by Tafakhori, Abbas, Yu Jin Ng, Alvin, Tohari, Sumanty, Venkatesh, Byrappa, Lee, Hane, Eskin, Ascia, Nelson, Stanley F, Bonnard, Carine, Reversade, Bruno, Kariminejad, Ariana

“…TWINKLE (c10orf2) gene is responsible for autosomal dominant progressive external ophthalmoplegia (PEO). In rare cases, additional features such as muscle…”
Get full text

Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma by Chan, Jason Yongsheng, Ng, Alvin Yu Jin, Cheng, Chee Leong, Nairismägi, Maarja-Liisa, Venkatesh, Byrappa, Cheah, Daryl Ming Zhe, Li, Shao-Tzu, Chan, Sock Hoai, Ngeow, Joanne, Laurensia, Yurike, Lim, Jing Quan, Pang, Jane Wan Lu, Nagarajan, Sanjanaa, Song, Tammy, Chia, Burton, Tan, Jing, Huang, Dachuan, Goh, Yeow Tee, Poon, Eileen, Somasundaram, Nagavalli, Tao, Miriam, Quek, Richard Hong Hui, Farid, Mohamad, Khor, Chiea Chuen, Bei, Jin-Xin, Tan, Soo Yong, Lim, Soon Thye, Ong, Choon Kiat, Tang, Tiffany

Get full text

Whole Exome Sequencing of Relapsed Double-Mutated CEBPA Acute Myeloid Leukemia Identified Mutated KIT and WNT10A As a Potential Co-Mutation with Negative Impact on Prognosis by NG, Chin-Hin, Ng, Alvin Yu-Jin, Yan, Benedict, Chng, Wee-Joo

“…Background: Acute myeloid leukemia (AML) with double-mutated CEBPA (dmCEBPA) occurred in about 10% of AML and it is usually associated with normal karyotype…”
Get full text