Results 191 to 200 of about 1,172,524 (219)

Threonine 348 regulates the subcellular localization of PTEN

FEBS Open Bio, EarlyView.
Thr348 in the C2 domain is a key contributor to PTEN subcellular localization. The PTEN350 fragment and PTENA4 accumulated in the nucleus, whereas PTENK13R,A4 predominantly localized to the plasma membrane. In contrast, substitution of Thr348 with Asp (T348D) disrupted these characteristic localization patterns, resulting in predominant cytoplasmic ...
Takashi Kato, Suzu Tanaka, Miyu Ohashi
wiley   +1 more source

A Novel Jak1 Gene Mutation in Invasive Breast Carcinoma. [PDF]

J Cell Mol Med
Kumar P, Rajput M, Pandey M.
europepmc   +1 more source

Severe peripheral neuropathy secondary to acute intermittent porphyria caused by a rare HMBS gene mutation: a case report. [PDF]

BMC Neurol
Li Y, Wang D, Hong D.
europepmc   +1 more source

Is a Novel Transthyretin Gene Mutation Associated With Cerebral Amyloid Angiopathy? [PDF]

Eur J Neurol
Camilla S, Giulia M, Benedetta S, Francesca B, Stefania M, Giuliana P, Gemma G, Laura G, Anna B.   +8 more
europepmc   +1 more source

A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review. [PDF]

BMC Med Genomics
Yan X, Li Z, Huang S, Yang X, Chang M, Cheng Z, Zhou LT.   +6 more
europepmc   +1 more source

Spontaneous ovarian hyperstimulation syndrome with a previously undescribed gene mutation of the follicle-stimulating hormone receptor gene: a case report. [PDF]

F S Rep
Loheit AC, Schleussner E, Fischer M, Kolterer A.   +3 more
europepmc   +1 more source

A Novel Clinical Feature in NOG Gene Mutation-Associated Syndrome. [PDF]

Audiol Res
Zrno M, Simunjak T, Bacan F, Lakus Ivancek M, Ajduk J.   +4 more
europepmc   +1 more source

Correction to: Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation. [PDF]

J Vet Intern Med
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Histopathological bladder cancer gene mutation prediction with hierarchical deep multiple-instance learning

Medical Image Analysis, 2023
Fei Ren, S Kevin Zhou, Yijun Shen
exaly