Results 11 to 20 of about 4,729 (146)

Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma [PDF]

Journal of the National Cancer Institute, 2015
The shelterin complex protects chromosomal ends by regulating how the telomerase complex interacts with telomeres. Following the recent finding in familial melanoma of inactivating germline mutations in POT1, encoding a member of the shelterin complex, we searched for mutations in the other five components of the shelterin complex in melanoma families ...
Lauren G Aoude, Antonia L Pritchard, Carla Daniela Robles-Espinoza   +2 more
exaly   +9 more sources

Shelterin Component TPP1 Drives Tumor Progression and Predicts Poor Prognosis in Hepatocellular Carcinoma [PDF]

Biomedicines
Background/Objectives: Telomere dysfunction and the shelterin complex are implicated in cancer, yet the specific functions and interactions of telomerase and shelterin genes in hepatocellular carcinoma (HCC) tumorigenesis remain poorly understood.
Jung Eun Jang, Hye Seon Kim, Jin Seoub Kim, Jae Mo Han, Hee Sun Cho, Kwon Yong Tak, Ji Won Han, Pil Soo Sung, Si Hyun Bae, Jeong Won Jang   +9 more
doaj   +2 more sources

Reconstitution of human shelterin complexes reveals unexpected stoichiometry and dual pathways to enhance telomerase processivity [PDF]

Nature Communications, 2017
The human shelterin complex protects telomere ends from being recognized as damaged DNA sites and regulates telomere length in conjunction with telomerase.
Ci Ji Lim, Arthur J. Zaug, Hee Jin Kim, Thomas R. Cech   +3 more
doaj   +3 more sources

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma. [PDF]

Pigment Cell Melanoma Res
Individuals with childhood and adolescent melanoma carry inherited mutations in shelterin complex genes, pigmentation genes and MBD4, but have fewer MC1R R‐alleles than adults with melanoma. Created with BioRender.com. ABSTRACT Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a
Johansson PA, Palmer JM, Bui-Raborn LT, Xu M, Jones KM, Higson H, Liu J, Brooks KM, Pritchard AL, Hayward NK, Brown KM.   +10 more
europepmc   +2 more sources

The shelterin complex and hematopoiesis. [PDF]

J Clin Invest, 2016
Mammalian chromosomes terminate in stretches of repetitive telomeric DNA that act as buffers to avoid loss of essential genetic information during end-replication. A multiprotein complex known as shelterin prevents recognition of telomeric sequences as sites of DNA damage.
Jones M, Bisht K, Savage SA, Nandakumar J, Keegan CE, Maillard I.   +5 more
europepmc   +4 more sources

Combatting cellular immortality in cancers by targeting the shelterin protein complex

Biology Direct
Shelterin proteins (TERF1, TERF2, TPP1, TINF2, POT1) protect telomeres, prevent unwarranted repair activation, and regulate telomerase activity. Alterations in these proteins can lead to cancer progression.
Sohini Chakraborty, Satarupa Banerjee
doaj   +3 more sources

Topoisomerase IIIα controls alternative lengthening of telomeres [PDF]

Cell Reports
Summary: Alternative lengthening of telomeres (ALT) is a homologous recombination-dependent telomere elongation mechanism utilized by at least 10%–15% of all cancers.
Prashant Khandagale, Yilun Sun, Daiki Taniyama, Sourav Saha, Liton Kumar Saha, Yves Pommier   +5 more
doaj   +2 more sources

Whole exome sequencing identified two novel mutations of ACD in Chinese patients with idiopathic pulmonary fibrosis [PDF]

Frontiers in Cell and Developmental Biology
Idiopathic Pulmonary Fibrosis (IPF) is a progressive, age-related, and distinct form of fibrosing interstitial pneumonia with an unknown etiology.
Gao-Hui Cao, Hui Yang, Qian Wang, Hong Luo, Liang-Liang Fan, Lv Liu, Lv Liu   +6 more
doaj   +2 more sources

Protection of the Telomeric Junction by the Shelterin Complex. [PDF]

J Am Chem Soc
Abstract Shelterin serves critical roles in suppressing superfluous DNA damage repair pathways on telomeres. The junction between double-stranded telomeric tracts (dsTEL) and single-stranded telomeric overhang (ssTEL) is the most accessible region of the telomeric DNA.
Shiekh S, Feldt D, Jack A, Kodikara SG, Alfehaid J, Pasha S, Yildiz A, Balci H.   +7 more
europepmc   +4 more sources

Identification of Prognostic and Tumor Microenvironment by Shelterin Complex-Related Signatures in Oral Squamous Cell Carcinoma. [PDF]

Oxid Med Cell Longev, 2022
Oral squamous cell carcinoma (OSCC) is a common malignant tumor of the oral cavity. Shelterin complex gene (SG) has an important role in regulating telomere structure and length. SG is considered promising as a novel prognostic marker for cancer and a potential target for tumor therapy. However, SGs have not been systematically studied in OSCC.
Zhang S, Yu H, Li J, Zhao L, Tan L, Song Q, Sun C.   +6 more
europepmc   +3 more sources