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Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia.
- Published in:
- Pakistan Journal of Medical Sciences, 2024, v. 40, n. 10, p. 2243, doi. 10.12669/pjms.40.10.10474
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- Publication type:
- Article
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53553-2
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- Publication type:
- Article
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01878-w
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- Publication type:
- Article
Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma.
- Published in:
- Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1420555
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- Publication type:
- Article
In silico induction of missense mutation in NNRTI protein: computational modelling and stability study of modelled proteins.
- Published in:
- Journal of Mathematical Chemistry, 2024, v. 62, n. 10, p. 2776, doi. 10.1007/s10910-023-01545-w
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- Publication type:
- Article
Chemoproteogenomic stratification of the missense variant cysteinome.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53520-x
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- Publication type:
- Article
Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2019, v. 85, n. 4, p. 438, doi. 10.4103/ijdvl.IJDVL_360_17
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- Publication type:
- Article
A novel missense mutation of the ATP2C1 gene in a Chinese patient with papular acantholytic dermatosis of the anogenital area.
- Published in:
- 2016
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- Publication type:
- Case Study
A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2015, v. 81, n. 4, p. 385, doi. 10.4103/0378-6323.158651
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- Publication type:
- Article
Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation.
- Published in:
- Indian Journal of Plastic Surgery, 2021, v. 54, n. 3, p. 370, doi. 10.1055/s-0041-1733808
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- Publication type:
- Article
Osteochondrodysplasia in a Scottish Fold Cat Treated with Radiation Therapy and Samarium-153-1,4,7,10-Tetraazacyclododecane-1,4,7,10-Tetramethylene-Phosphonic Acid.
- Published in:
- Journal of the American Animal Hospital Association, 2019, v. 55, n. 3, p. N.PAG, doi. 10.5326/JAAHA-MS-6797
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- Publication type:
- Article
Wilson disease missense mutations in ATP7B affect metal-binding domain structural dynamics.
- Published in:
- BioMetals, 2019, v. 32, n. 6, p. 875, doi. 10.1007/s10534-019-00219-y
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- Publication type:
- Article
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.
- Published in:
- Molecular Medicine, 2019, v. 26, n. 1, p. 1, doi. 10.1186/s10020-019-0129-7
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- Publication type:
- Article
Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity.
- Published in:
- Cell Biochemistry & Function, 2024, v. 42, n. 4, p. 1, doi. 10.1002/cbf.4034
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- Publication type:
- Article
Structural and functional insights on vitamin D receptor and CYP24A1 deleterious single nucleotide polymorphisms: A computational and pharmacogenomics perpetual approach.
- Published in:
- Cell Biochemistry & Function, 2021, v. 39, n. 7, p. 874, doi. 10.1002/cbf.3658
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- Publication type:
- Article
First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family.
- Published in:
- Calcified Tissue International, 2015, v. 96, n. 4, p. 265, doi. 10.1007/s00223-014-9951-7
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- Publication type:
- Article
Atrophic changes in thyroid tumors are strong indicators of underlying DICER1 mutations: a bi-institutional genotype–phenotype correlation study.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2024, v. 485, n. 1, p. 105, doi. 10.1007/s00428-024-03802-y
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- Publication type:
- Article
Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2024, v. 484, n. 6, p. 1023, doi. 10.1007/s00428-024-03759-y
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- Publication type:
- Article
CTNNB1 mutation-driven hybrid tumor: desmoid fibromatosis with an unusual associated epithelioid component arising in association with a neuromuscular choristoma.
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- Virchows Archiv: European Journal of Pathology, 2024, v. 484, n. 4, p. 715, doi. 10.1007/s00428-023-03729-w
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- Publication type:
- Article
Novel genetic characteristics of multifocal micronodular pneumocyte hyperplasia (MMPH): a case report with frequent BRAF mutations analyzed by next-generation sequencing supporting benign behaviors of MMPH.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2021, v. 479, n. 3, p. 637, doi. 10.1007/s00428-020-03013-1
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- Publication type:
- Article
Molecular and clinicopathological features of appendiceal mucinous neoplasms.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2021, v. 478, n. 3, p. 413, doi. 10.1007/s00428-020-02906-5
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- Publication type:
- Article
IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis.
- Published in:
- 2019
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- Publication type:
- journal article
Molecular and clinicopathological analyses of esophageal carcinosarcoma with special reference to morphological change.
- Published in:
- 2019
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- Publication type:
- journal article
Peripheral temperature dysregulation associated with functionally altered Na<sub>V</sub>1.8 channels.
- Published in:
- 2023
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- Publication type:
- Case Study
Apolipoprotein L1 (APOL1) cation current in HEK-293 cells and in human podocytes.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2023, v. 475, n. 3, p. 323, doi. 10.1007/s00424-022-02767-8
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- Publication type:
- Article
Novel missense mutation in the EDA gene in a family affected by oligodontia.
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- Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopadie, 2016, v. 77, n. 1, p. 31, doi. 10.1007/s00056-015-0005-1
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- Publication type:
- Article
NOTCH3 missense mutations as predictor of long-term response to gemcitabine in a patient with epithelioid hemangioendothelioma.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2023, v. 149, n. 9, p. 6753, doi. 10.1007/s00432-023-04598-1
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- Publication type:
- Article
Molecular, clinicopathological characteristics and surgical results of resectable SMARCA4-deficient thoracic tumors.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2023, v. 149, n. 8, p. 4455, doi. 10.1007/s00432-022-04359-6
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- Publication type:
- Article
All EGFR mutations are (not) created equal: focus on uncommon EGFR mutations.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2023, v. 149, n. 4, p. 1541, doi. 10.1007/s00432-022-04033-x
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- Publication type:
- Article
Aggregate analysis based on TCGA: TTN missense mutation correlates with favorable prognosis in lung squamous cell carcinoma.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2019, v. 145, n. 4, p. 1027, doi. 10.1007/s00432-019-02861-y
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- Publication type:
- Article
Combination of the mutations for improving activity of TEV protease in inclusion bodies.
- Published in:
- Bioprocess & Biosystems Engineering, 2021, v. 44, n. 10, p. 2129, doi. 10.1007/s00449-021-02589-5
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- Publication type:
- Article
Correction to: A rare missense variant in the milk fat globule‑EGF factor 8 (MFGE8) increases T2DM susceptibility and cardiovascular disease risk with population‑specific effects.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Frequency and spectrum of glucokinase mutations in an adult Maltese population.
- Published in:
- Acta Diabetologica, 2022, v. 59, n. 3, p. 339, doi. 10.1007/s00592-021-01814-7
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- Publication type:
- Article
Novel perspectives of super-high dose sulfonylurea and high-dose oral prednisolone in an infant with DEND syndrome due to V64M heterozygote KCNJ11 mutation.
- Published in:
- Acta Diabetologica, 2021, v. 58, n. 12, p. 1665, doi. 10.1007/s00592-021-01763-1
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- Publication type:
- Article
Renalase gene Glu37Asp polymorphism affects susceptibility to diabetic retinopathy in type 2 diabetes mellitus.
- Published in:
- Acta Diabetologica, 2021, v. 58, n. 12, p. 1595, doi. 10.1007/s00592-021-01740-8
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- Publication type:
- Article
The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy.
- Published in:
- Acta Diabetologica, 2020, v. 57, n. 5, p. 589, doi. 10.1007/s00592-019-01462-y
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- Publication type:
- Article
Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2018, v. 46, n. 5, p. 1919, doi. 10.1159/000489381
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- Publication type:
- Article
AML-Associated Mutations in DNA Methyltransferase DNMT3A.
- Published in:
- Biochemistry (00062979), 2021, v. 86, n. 3, p. 307, doi. 10.1134/S000629792103007X
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- Publication type:
- Article
MET Exon 14 Variants in Non-Small Cell Lung Carcinoma: Prevalence, Clinicopathologic and Molecular Features.
- Published in:
- Journal of Molecular Pathology, 2023, v. 4, n. 1, p. 46, doi. 10.3390/jmp4010006
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- Publication type:
- Article
Candidate Variant Detection by Whole Exome Sequencing in Two Cases with Congenital Hemolytic Anemia.
- Published in:
- Experimed, 2022, v. 12, n. 1, p. S16
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- Publication type:
- Article
Few Actionable Genomic Alterations Identified in Renal-Cell Carcinoma.
- Published in:
- Oncology Practice Management, 2020, v. 10, n. 8, p. 18
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- Publication type:
- Article
G551D-CFTR needs more bound actin than wild-type CFTR to maintain its presence in plasma membranes.
- Published in:
- Cell Biology International, 2015, v. 39, n. 8, p. 978, doi. 10.1002/cbin.10456
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- Publication type:
- Article
Genomic and immune landscape in hepatocellular carcinoma: Implications for personalized therapeutics.
- Published in:
- Environmental Toxicology, 2024, v. 39, n. 3, p. 1601, doi. 10.1002/tox.24062
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- Publication type:
- Article
Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.
- Published in:
- NPJ Parkinson's Disease, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41531-021-00258-8
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- Publication type:
- Article
Molecular Study of Fluoroquinolones Resistance Staphylococcus Aureus Isolated from Different Clinical Sources.
- Published in:
- International Journal of Pharmaceutical Research (09752366), 2020, v. 12, n. 3, p. 814, doi. 10.31838/ijpr/2020.12.03.118
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- Publication type:
- Article
A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature.
- Published in:
- Journal of Cosmetic Dermatology, 2020, v. 19, n. 6, p. 1508, doi. 10.1111/jocd.13172
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- Publication type:
- Article
Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia.
- Published in:
- Journal of Cosmetic Dermatology, 2019, v. 18, n. 3, p. 912, doi. 10.1111/jocd.12707
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- Publication type:
- Article
A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma.
- Published in:
- Journal of Cosmetic Dermatology, 2019, v. 18, n. 1, p. 371, doi. 10.1111/jocd.12533
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- Publication type:
- Article
Whole-exome sequencing reveals a missense mutation in the KCND3 gene in a patient with SCA19/22.
- Published in:
- Neurology & Clinical Neuroscience, 2015, v. 3, n. 5, p. 197, doi. 10.1111/ncn3.12004
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- Publication type:
- Article
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
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- Publication type:
- Article