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Works (13)

Application of a bespoke monoclonal antibody panel to characterize immune cell populations in cave nectar bats.

Cell reports
2024-08-28 | Journal article
Contributors: Chen S; Sia WR; Tang LJW; Gamage AM; Chan WOY; Zhu F; Chia W; Kwek MSS; Kong PS; Lim BL et al.
Source: Self-asserted source
Abigail Yi Ting Loh

PYCR1 Levels Track with Premature and Chronological Skin Aging

2023-05-28 | Preprint
Contributors: Kortessa Sotiropoulou; Saniye Yumlu; Tomoko Hirano; Michael Maier; Abigail Loh; Peh Fern Ong; Onn Siong Yim; Chunping Liu; Emmanuel Vial; Umut Altunoğlu et al.
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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis

EMBO Molecular Medicine
2023-05-08 | Journal article
Contributors: Samantha Wong; Yu Xuan Tan; Abigail Yi Ting Loh; Kiat Yi Tan; Hane Lee; Zainab Aziz; Stanley F Nelson; Engin Özkan; Hülya Kayserili; Nathalie Escande‐Beillard et al.
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Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism

Development
2022-10-01 | Journal article
Contributors: Hyuk Nam Kwon; Kristen Kurtzeborn; Vladislav Iaroshenko; Xing Jin; Abigail Loh; Nathalie Escande-Beillard; Bruno Reversade; Sunghyouk Park; Satu Kuure
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A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development

2022-03-04 | Preprint
Contributors: Samantha Wong; Yu Xuan Tan; Kiat Yi Tan; Abigail Loh; Zainab Aziz; Engin Özkan; Hülya Kayserili; Nathalie Escande-Beillard; Bruno Reversade
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Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.

American journal of medical genetics. Part A
2022-02-25 | Journal article
Contributors: Loh AYT; Špoljar S; Neo GYW; Nathalie Escande-Beillard; Leushacke M; Luijten MNH; Venkatesh B; Carine Bonnard; van Steensel MAM; Hamm H et al.
Source: Self-asserted source
Abigail Yi Ting Loh

Huriez syndrome caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1

British Journal of Dermatology
2021-06 | Journal article
Contributors: A.Y.T. Loh; C.M. Ho; S. Muthiah; B. Venkatesh; S. Zwolinski; A.P.J.J. Bray; B. Reversade; N. Rajan; T.J. Carney
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Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

2021-04-06 | Other
Contributors: Hui Hui Wong; Sze Hwee Seet; Michael Maier; Ricardo Moreno Traspas; Cheryl Lee; Zhang Shan; Abigail Y. T. Loh; Crystal Y. Chia; Tze Shin Teoh; Danielle Sng et al.
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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Nature communications
2020-09-11 | Journal article
Contributors: Elouej S; Karim HARHOURI; Le Mao M; Baujat G; Nampoothiri S; Hülya Kayserili; Nihal Almenabawy; Selim L; Paneque AL; Christian Kubisch et al.
Source: Self-asserted source
Abigail Yi Ting Loh

Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.

Neuron
2020-04-23 | Journal article
Contributors: Nathalie Escande-Beillard; Loh A; Sahar Saleem; Kanata K; Hashimoto Y; Altunoglu U; Metoska A; Grandjean J; Ng FM; Pomp O et al.
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Abigail Yi Ting Loh

Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesis.

Journal of hepatology
2019-11-11 | Journal article
Contributors: Zhaobing Ding; Ericksen RE; Nathalie Escande-Beillard; Qian Yi Lee; Loh A; Denil S; Steckel M; Haegebarth A; Wai Ho TS; Pierce K.H. Chow et al.
Source: Self-asserted source
Abigail Yi Ting Loh

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

International journal of molecular sciences
2017-03-15 | Journal article
Contributors: Ariana Kariminejad; Afroozan F; Bozorgmehr B; Alireza Ghanadan; Susan Akbaroghli; Khorram Khorshid HR; Mojahedi F; Setoodeh A; Loh A; Yu Xuan Tan et al.
Source: Self-asserted source
Abigail Yi Ting Loh

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

American journal of human genetics
2015-08-27 | Journal article
Contributors: Björn Fischer-Zirnsak; Nathalie Escande-Beillard; Ganesh J; Yu Xuan Tan; Al Bughaili M; Lin AE; Sahai I; Bahena P; Reichert SL; Loh A et al.
Source: Self-asserted source
Abigail Yi Ting Loh