A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype

Authors: Meijiao Ma, Jinhai Ma, Yuanyuan Lian, Xueli Wu, Wenming Wang, Weining Rong, Xunlun Sheng

Source: Molecular Genetics & Genomic Medicine, Vol 13, Iss 2, Pp n/a-n/a (2025)

Subject Terms: ABHD12, Chinese, new genotype‐phenotype, PHARC, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/b699e0acf60c42808ec7da3b704baa9e

Integrative analysis of ferroptosis-related genes reveals that ABHD12 is a novel prognostic biomarker and facilitates hepatocellular carcinoma tumorigenesis

Authors: Tiantao Mao, Maosong Zhang, Zupei Peng, Min Tang, Tianyu Li, Chengshu Liang

Source: Discover Oncology, Vol 15, Iss 1, Pp 1-25 (2024)

Subject Terms: Ferroptosis, Hepatocellular carcinoma, Tumor microenvironment, Biomarker, ABHD12, Migration, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2730-6011

Access URL: https://doaj.org/article/6d0152eccc2a42dcb0a4857ce32a7f38

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants

Authors: Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yuan

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)

Subject Terms: ABHD12, PHARC syndrome, Genotype-phenotype associations, Cochlear implant, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/e9a03254ab4e479e9ed0efd5ccfed104

Identification of ABHD6 as a lysophosphatidylserine lipase in the mammalian liver and kidneys

Authors: Chakraborty, Arnab ¹, Punnamraju, Prajwal ^{1, ‡}, Sajeevan, Theja ^{1, ‡}, Kaur, Arshdeep ², Kolthur-Seetharam, Ullas ^{2, 3}, Kamat, Siddhesh S. ^{1, ∗}

Source: In Journal of Biological Chemistry February 2025 301(2)

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

Authors: Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al-Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya T. Hagos, Wijdan Al-Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S. A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed Eddine Gallouzi, Fowzan S. Alkuraya

Source: Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)

Subject Terms: Long-read sequencing, Autozygome, STX3, ABHD12, C1orf109, FLVCR1, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/fd9de43c2bca4f7999135a735e07781d

Elevated Levels of Arachidonic Acid-Derived Lipids Including Prostaglandins and Endocannabinoids Are Present Throughout ABHD12 Knockout Brains: Novel Insights Into the Neurodegenerative Phenotype

Authors: Emma Leishman, Ken Mackie, Heather B. Bradshaw

Source: Frontiers in Molecular Neuroscience, Vol 12 (2019)

Subject Terms: ABHD12, PHARC, lipidomics, arachidonic acid, endogenous cannabinoid, aging, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnmol.2019.00142/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/dec61f0d1d3d4058acf4818a46ea59b7

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

Authors: Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Anja Knoll-Gellida, Pierre Rambeau, Isabelle Coupry, Michèle André, Eva Malm, Claes Möller, Sten Andreasson, Nanna D. Rendtorff, Lisbeth Tranebjærg, Michel Koenig, Didier Lacombe, Cyril Goizet, Patrick J. Babin

Source: Neurobiology of Disease, Vol 98, Iss , Pp 36-51 (2017)

Subject Terms: Neurodegenerative disease, PHARC, ABHD12, Mutations, Cell and zebrafish models, Demyelinating polyneuropathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996116302674; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/758f697767cc456fb129803b2625c7b9

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Authors: Eisenberger Tobias, Slim Rima, Mansour Ahmad, Nauck Markus, Nürnberg Gudrun, Nürnberg Peter, Decker Christian, Dafinger Claudia, Ebermann Inga, Bergmann Carsten, Bolz Hanno

Source: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 59 (2012)

Subject Terms: Usher syndrome, Deafness, Retinitis pigmentosa, ABHD12, PHARC, Medicine

File Description: electronic resource

Relation: http://www.ojrd.com/content/7/1/59; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/e2f4483210944afc8241d9b2871bc3f1

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