Search Results - "Yu Jin Ng"

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

The Conceptual Development of a Multifunctional Stepladder for Older People and Caregivers by Gan, Kah Wei, Ng, Poh Kiat, Liew, Kia Wai, Ng, Yu Jin, Yeow, Jian Ai

“…Stepladders are compact, foldable ladders with flat steps and a platform. Despite all the research and design efforts, there are still limitations in terms of…”
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

The Conceptualisation of Inventive and Repurposable Children’s Furniture by Zhi Yuan Phuah, Poh Kiat Ng, Boon Kian Lim, Robert Jeyakumar Nathan, Yu Jin Ng, Jian Ai Yeow

“…Every piece of furniture has a certain lifespan. Most furniture is eventually thrown away and ends up in landfill, thus polluting the environment. The idea of…”
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

Performance Evaluation of Subcontractors Using Weighted Sum Method through KPI Measurement by Lumanauw, Richard Nico, Ng, Poh Kiat, Saptari, Adi, Halim, Isa, Toha, Mohamad, Ng, Yu Jin

“…Key Performance Indicators (KPIs) help measure objectives critical to business sustainability. This research takes place in a toy factory’s injection moulding…”
Get full text

The Conceptualisation and Development of a Space-Saving Multipurpose Table for Enhanced Ergonomic Performance by Cheng, Hou Yip, Ng, Poh Kiat, Nathan, Robert Jeyakumar, Saptari, Adi, Ng, Yu Jin, Yeow, Jian Ai, Ng, Kim Yun

“…Foldable furniture is a trend of the modern furniture industry. However, apart from limitations attributed to multifunctionality and space saving…”
Get full text

Development and Usability Testing of a Finger Grip Enhancer for the Elderly by Tan, Dominic Wen How, Ng, Poh Kiat, Noor, Ervina Efzan Mhd, Saptari, Adi, Hue, Chee Chen, Ng, Yu Jin

“…As people age, their finger function deteriorates due to muscle, nerve, and brain degeneration. While exercises might delay this deterioration, an invention…”
Get full text

The Development of an Automated Multi-Spit Lamb Rotisserie Machine for Improved Productivity by Chia, Xun Wei, Ng, Poh Kiat, Nathan, Robert Jeyakumar, Yeow, Jian Ai, Lim, Way Soong, Ng, Yu Jin

“…Innovations in food manufacturing support the agenda for sustainable development goal 9 (SDG9) on industry, innovation and infrastructure. Pursuant to this…”
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

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

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

Building Human Resilience: The Role of Community Based Training and Awareness Program (CBTAP) for Dam Related Flood Risk Management by Yu Jin Ng

“…The structural elements of dams are prone to defects and potential failures despite continuous upgrade on design, variety of construction materials used, daily…”
Get full text