| Upregulation of POC1A in lung adenocarcinoma promotes tumour progression and predicts poor prognosis. | Upregulation of POC1A in lung adenocarcinoma promotes tumour progression and predicts poor prognosis.
Li ZH, Li JY, Wu ZT, Zhu YJ, Zhuo T, Nong JS, Qian J, Peng HJ, Dai L, Wang YY, Chen MW, Zeng XC., Free PMC Article | 03/14/2024 |
| Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling. | Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Perge K, Capel E, Villanueva C, Gautheron J, Diallo S, Auclair M, Rondeau S, Morichon R, Brioude F, Jéru I, Rossi M, Nicolino M, Vigouroux C. | 02/14/2024 |
| POC1A, prognostic biomarker of immunosuppressive microenvironment in cancer. | POC1A, prognostic biomarker of immunosuppressive microenvironment in cancer.
Zhao Q, Gao S, Chen X, Zhu X., Free PMC Article | 07/16/2022 |
| Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps. | Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Mericq V, Huang-Doran I, Al-Naqeb D, Basaure J, Castiglioni C, de Bruin C, Hendriks Y, Bertini E, Alkuraya FS, Losekoot M, Al-Rubeaan K, Semple RK, Wit JM., Free PMC Article | 04/2/2022 |
| we report the first patient with SOFT syndrome harboring compound heterozygous variants of POC1A. understanding POC1A mutations may provide appropriate management and genetic counseling to these patients and their families. | SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
Ko JM, Jung S, Seo J, Shin CH, Cheong HI, Choi M, Kim OH, Cho TJ. | 04/8/2017 |
| Result identified a novel mutation in POC1A of patients with primordial dwarfism and showed that this mutation causes the formation of multiple numbers of centrioles and multipolar spindles with abnormal chromosome arrangement. | Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
Koparir A, Karatas OF, Yuceturk B, Yuksel B, Bayrak AO, Gerdan OF, Sagiroglu MS, Gezdirici A, Kirimtay K, Selcuk E, Karabay A, Creighton CJ, Yuksel A, Ozen M. | 07/16/2016 |
| POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance. | Truncation of POC1A associated with short stature and extreme insulin resistance.
Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C, UK10K Consortium, Savage DB, O'Rahilly S, Semple RK, Barroso I., Free PMC Article | 06/11/2016 |
| Poc1A and Poc1B play redundant, but essential, roles in generation of stable centrioles, but Poc1B may have additional independent functions during cell cycle progression. | Poc1A and Poc1B act together in human cells to ensure centriole integrity.
Venoux M, Tait X, Hames RS, Straatman KR, Woodland HR, Fry AM., Free PMC Article | 09/14/2013 |
| POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. | POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS., Free PMC Article | 10/27/2012 |
| Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, Fuchs-Telem D, Qiaoli L, Cohen-Katsenelson K, Spiegel R, Nousbeck J, Israeli S, Borochowitz ZU, Padalon-Brauch G, Uitto J, Horowitz M, Shalev S, Sprecher E., Free PMC Article | 10/27/2012 |
| Based on these data, we propose that Pix1 and Pix2 are microtubule-associated adaptor proteins that likely contribute to a range of developmental and cell division processes. | Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells.
Hames RS, Hames R, Prosser SL, Euteneuer U, Lopes CA, Moore W, Woodland HR, Fry AM. | 01/21/2010 |