Results 161 to 170 of about 554,004 (364)

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria

JAMA dermatology, 2017
Mdms ManishaBalwani, MS HetanshiNaik, MD KarlE.Anderson, MD D.MontgomeryBissell, MD JosephBloomer, MD HerbertL.Bonkovsky, PhD JohnD.Phillips, MS JessicaR.Overbey, MD BruceWang, MD AshwaniK.Singal, MD LawrenceU.Liu, PhD RobertJ.Desnick   +11 more
semanticscholar   +1 more source

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders

BMC Medical Genomics
Background Identification of genetic variations associated with early-onset high myopia (eoHM) provides a genetic basis for risk assessment and prevention of this disease.
Chunxiao Han, Shanshan Wu, Yang Yang, Xiangchun Yang, Haibo Li   +4 more
doaj   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family

International Journal of Genomics
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive genetic disease characterized by clinical symptoms such as eczema, thrombocytopenia with small platelets, immune deficiency, prone to autoimmune diseases, and malignant tumors.
Lingyu Wang, Jie Zhang, Linna Lu, Juan Ren, Yaofang Zhang, Lidong Zhao, Wukang Shen, Xucheng Hu, Shuai Fang, Xiaomei Lu, Gang Wang, Linhua Yang   +11 more
doaj   +1 more source

A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants

Kidney International Reports
Alport syndrome (AS) is an inherited kidney disease with significant clinical heterogeneity. Prognosis prediction and risk assessment are important to assist patient care. However, a predictive tool of disease progression is still lacking.The prediction model was developed in 363 patients (124 kidney failure events) with X-linked AS (XLAS) from a ...
Mengyao Zeng, Hongling Di, Jie Ding, Yanqin Zhang, Hong Xu, Jingyuan Xie, Jianhua Mao, Aihua Zhang, Guisen Li, Jiahui Zhang, Erzhi Gao, Dandan Liang, Qing Wang, Ling Wang, Yu An, Chunxia Zheng, Zhihong Liu   +16 more
openaire   +3 more sources

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source

A family case of a rare Xq28 duplication

Вавиловский журнал генетики и селекции
Genetic factors contribute to the etiology of intellectual disability in 25–50 % of cases. Chromosomal abnormalities, such as microdeletions and microduplications, are the most significant genetic causes. We examined a family where two boys, aged 8 and 7,
A. E. Kopytova, E. N. Tolmacheva, D. A. Emelina, O. S. Glotov, V. V. Miroshnikova, T. S. Usenko, O. Yu. Vasilyeva, E. D. Kasyanov, E. A. Fonova, I. V. Makarov, A. D. Lobanov, G. E. Mazo, S. N. Pchelina, I. N. Lebedev   +13 more
doaj   +1 more source

Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations

Aminoacyl-tRNA synthetases are essential enzymes for the accurate translation of genetic information. IARS1 and IARS2 are isoleucyl-tRNA synthetases functioning in the cytoplasm and mitochondria, respectively, with genetic mutations in these enzymes ...
Masaki Watanabe, Nobuya Sasaki
core   +1 more source

Oncogenic DMTF1β promotes cancer cell motility by regulating autophagy through ULK1 stabilization

Molecular Oncology, EarlyView.
In the current study, we demonstrate that the oncogene DMTF1β regulates ULK1 stability by reducing its proteasomal degradation in cancer cells. This stabilization enables ULK1 to induce autophagy, which in turn facilitates cancer cell migration. Consequently, reduced DMTF1β levels lead to decreased autophagy and impaired cancer cell migration.
Jun Xu, Nicolas J. Niklaus, Anna M. Schläfli, Igor Tokarchuk, Magali Humbert, Federico La Manna, Bich Vu, David Maul, Ramin Radpour, Marianna Kruithof‐de Julio, Inti Zlobec, Jörn Dengjel, Bruce E. Torbett, Mario P. Tschan   +13 more
wiley   +1 more source