PTRH2 cDNA ORF clone, Homo sapiens(human)

Downregulation of Bit1 expression promotes growth, anoikis resistance, and transformation of immortalized human bronchial epithelial cells via Erk activation-dependent suppression of E-cadherin.
Yao X, Gray S, Pham T, Delgardo M, Nguyen A, Do S, Ireland SK, Chen R, Abdel-Mageed AB, Biliran H
Biochemical and biophysical research communications495(1)1240-1248(2018 01)

Preliminary evaluation for Bit1 as a potential biomarker for squamous cell carcinoma and adenocarcinoma of esophagus.
Chen J, Liu H, Gao P, Hui Y, Yang Z, Zhang X, Xu P, Tian F, Fan T
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine39(5)1010428317708267(2017 May)

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
Sharkia R, Shalev SA, Zalan A, Marom-David M, Watemberg N, Urquhart JE, Daly SB, Bhaskar SS, Williams SG, Newman WG, Spiegel R, Azem A, Elpeleg O, Mahajnah M
American journal of medical genetics. Part A173(4)1051-1055(2017 Apr)

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schr?tter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, H?bner C, Kaindl AM
Annals of clinical and translational neurology1(12)1024-35(2014 Dec)

Bit-1 mediates integrin-dependent cell survival through activation of the NFkappaB pathway.
Griffiths GS, Grundl M, Leychenko A, Reiter S, Young-Robbins SS, Sulzmaier FJ, Caliva MJ, Ramos JW, Matter ML
The Journal of biological chemistry286(16)14713-23(2011 Apr)

These collective findings indicate that loss of Bit1 expression contributes to the acquisition of malignant phenotype of human lung epithelial cells via Erk activation-induced suppression of E-cadherin expression.
Title: Downregulation of Bit1 expression promotes growth, anoikis resistance, and transformation of immortalized human bronchial epithelial cells via Erk activation-dependent suppression of E-cadherin.

Bcl-2 expression patterns in various differentiated esophageal squamous cell carcinoma were higher than those in corresponding normal esophageal tissues with no statistical differences ( p > 0.05). Importantly, Bit1 expression was positively correlated with both matrix metalloproteinase 2 and Bcl-2 expression in esophageal squamous cell carcinoma and esophageal adenocarcinoma tissues ( p < 0.05).
Title: Preliminary evaluation for Bit1 as a potential biomarker for squamous cell carcinoma and adenocarcinoma of esophagus.

Our data establishes a PTRH2 mutation as a novel driver of congenital muscle degeneration and identifies a potential novel target to treat muscle myopathies.
Title: PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy in three sisters from a consanguineous family.
Title: Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

This study reports on five infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation.
Title: Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.