Results for &quot;&quot;Genes, X-Linked&quot;&quot;[mesh_terms]

The pathogenicity of genomic/genetic variant of X-chromosomal genes in males with intellectual disability.

Hua Xie, Xiao-Li Chen, Fang Liu, Ji-Ping Peng

Yi chuan = Hereditas 2017;39(6):455-468

A possible role for mitochondrial dysfunction in migraine.

L R Griffiths, S Stuart

Molecular genetics and genomics : MGG 2013;287(11-12):837-44

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.

Samantha R De Silva, Gavin Arno, Anthony G Robson, Ana Fakin, Nikolas Pontikos, Moin D Mohamed, Alan C Bird, Anthony T Moore, Michel Michaelides, Andrew R Webster, Omar A Mahroo

Progress in retinal and eye research 2021;82():100898

The latest progress on miR-374 and its functional implications in physiological and pathological processes.

Yi Zhou, Jianni Qi, Deya Shang, Yongsheng Zhang, Dawei Zhou, Hongjun Bian

Journal of cellular and molecular medicine 2020;23(5):3063-3076

A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.

Bo-Yun Yang, Han-Xiao Yu, Jie Min, Xiao-Xiao Song

Clinical rheumatology 2021;39(3):949-956

Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.

Manisha Balwani

Molecular genetics and metabolism 2020;128(3):298-303

G6PD deficiency: the genotype-phenotype association.

Philip J Mason, José M Bautista, Florinda Gilsanz

Blood reviews 2007;21(5):267-83

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Kyoko Takano, Naoko Shiba, Tomomi Yamaguchi, Tomoki Kosho, Yoshimitsu Fukushima, Yuji Inaba, Noriko Aida, Keiko Wakui

American journal of medical genetics. Part A 2016;170A(2):322-328

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Cornelia Kraus, Steffen Uebe, Christian T Thiel, Arif B Ekici, André Reis, Christiane Zweier

American journal of medical genetics. Part A 2019;176(12):2872-2876

Role of the bicarbonate-responsive soluble adenylyl cyclase in cholangiocyte apoptosis in primary biliary cholangitis; a new hypothesis.

Ronald P J Oude Elferink, Ulrich Beuers, Simei Go, Jung-Chin Chang, Arthur J Verhoeven

Biochimica et biophysica acta. Molecular basis of disease 2018;1864(4 Pt B):1232-1239

Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study.

Ecosse Lamoureux, Nicolette Lyttle, Deb Colville, James D Smith, Judy Savige

Ophthalmic genetics 2020;40(2):129-134

Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.

Jouni Väliaho, Imrul Faisal, Csaba Ortutay, C I Edvard Smith, Mauno Vihinen

Human mutation 2016;36(6):638-47

Human inhibitor of apoptosis proteins: why XIAP is the black sheep of the family.

Brendan P Eckelman, Guy S Salvesen, Fiona L Scott

EMBO reports 2006;7(10):988-94

A rational free energy-based approach to understanding and targeting disease-causing missense mutations.

Zhe Zhang, Shawn Witham, Marharita Petukh, Gautier Moroy, Maria Miteva, Yoshihiko Ikeguchi, Emil Alexov

Journal of the American Medical Informatics Association : JAMIA 2013;20(4):643-51