| Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia. | Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia.
Chand P, Sulaiman A, Kirmani S. | 10/28/2023 |
| Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice. | Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Nair D, Diaz-Rosado A, Varella-Branco E, Ramos I, Black A, Angireddy R, Park J, Murali S, Yoon A, Ciesielski B, O'Brien WT, Passos-Bueno MR, Bhoj E., Free PMC Article | 09/23/2023 |
| TBCK syndrome: a rare multi-organ neurodegenerative disease. | TBCK syndrome: a rare multi-organ neurodegenerative disease.
Durham EL, Angireddy R, Black A, Melendez-Perez A, Smith S, Gonzalez EM, Navarro KG, Díaz A, Bhoj EJK, Katsura KA., Free PMC Article | 09/19/2023 |
| Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. | Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.
Sabanathan S, Gulhane D, Mankad K, Davison J, Ong MT, Phadke R, Robinson R, Spiller M, Wakeling E, Ramdas S, Brady AF, Balasubramanian M, Munot P. | 02/4/2023 |
| A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. | A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
Dai H, Zhu W, Yuan B, Walley N, Schoch K, Jiang YH, Phillips JA, Jones MS, Liu P, Murdock DR, Burrage LC, Lee B, Rosenfeld JA, Xiao R, Undiagnosed Diseases Network., Free PMC Article | 12/17/2022 |
| These findings suggest that miR-1208 acts as a tumor suppressor and targets TBCK directly, thus possessing great potential for use in renal cancer therapy. | MiR-1208 Increases the Sensitivity to Cisplatin by Targeting TBCK in Renal Cancer Cells.
Kim EA, Jang JH, Sung EG, Song IH, Kim JY, Lee TJ., Free PMC Article | 12/28/2019 |
| Evidence that TBC1 domain-containing kinase (TBCK) deficiency disorder associated with homozygous TBCK mutations is a novel type of lysosomal storage disease. | Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?
Beck-Wödl S, Harzer K, Sturm M, Buchert R, Rieß O, Mennel HD, Latta E, Pagenstecher A, Keber U., Free PMC Article | 07/13/2019 |
| A novel TBCK mutation was identified in two siblings with infantile hypotonia, psychomotor retardation and characteristic facies type 3. | Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.
Zapata-Aldana E, Kim DD, Remtulla S, Prasad C, Nguyen CT, Campbell C. | 04/6/2019 |
| TBCK-encephaloneuronopathy is a clinically distinguishable syndrome with progressive central and peripheral nervous system dysfunction, consistently observed in patients with the TBCK mutation | Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Ortiz-González XR, Tintos-Hernández JA, Keller K, Li X, Foley AR, Bharucha-Goebel DX, Kessler SK, Yum SW, Crino PB, He M, Wallace DC, Bönnemann CG., Free PMC Article | 01/26/2019 |
| We conclude that the c.1854delT variant in the TBCK gene is the mutation causing the congenital brain abnormality in an Arab-Moslem family from northern Israel. | TBCK-related intellectual disability syndrome: Case study of two patients.
Mandel H, Khayat M, Chervinsky E, Elpeleg O, Shalev S. | 10/28/2017 |
| RNAsequencing showed that the t(4;5)(q24;q31) resulted in recombination of the genes TBCK on 4q24 and P4HA2 on 5q31.1 with generation of an inframe TBCKP4HA2 and the reciprocal but outofframe P4HA2TBCK fusion transcripts. | Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma.
Panagopoulos I, Gorunova L, Viset T, Heim S., Free PMC Article | 03/11/2017 |
| We have established that biallelic mutations in TBCK cause a severe neurodevelopmental disorder whose major features include profound developmental delay or cognitive deficit, brain atrophy without microcephaly. | Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z, University of Washington Center for Mendelian Genomics, Bamshad MJ, Ortiz-Gonzalez XR, Tartaglia M, Chopra M, Doherty D., Free PMC Article | 09/3/2016 |
| We have reported a series of 13 individuals from nine unrelated families that harbor biallelic mutation in TBCK and display overlapping features of intellectual disability and hypotonia. This condition is called TBCK-related intellectual disability syndrome. | Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H., Free PMC Article | 09/3/2016 |
| localization and function of TBCK | A long type of TBCK is a novel cytoplasmic and mitotic apparatus-associated protein likely suppressing cell proliferation.
Wu J, Li Q, Li Y, Lin J, Yang D, Zhu G, Wang L, He D, Lu G, Zeng C. | 08/16/2014 |
| TBCK may play an important role in cell proliferation, cell growth and actin organization possibly by modulating mTOR pathway. | TBCK influences cell proliferation, cell size and mTOR signaling pathway.
Liu Y, Yan X, Zhou T., Free PMC Article | 04/12/2014 |
| Observational study of gene-disease association. (HuGE Navigator) | A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
Kalsi G, Kuo PH, Aliev F, Alexander J, McMichael O, Patterson DG, Walsh D, Zhao Z, Schuckit M, Nurnberger J Jr, Edenberg H, Kramer J, Hesselbrock V, Tischfield JA, Vladimirov V, Prescott CA, Dick DM, Kendler KS, Riley BP., Free PMC Article | 06/30/2010 |