1 |
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
57
5
|
Roucher-Boulez F...Morel Y
|
27129361 |
2016 |
2 |
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.
57
5
|
Yamaguchi R...Ogata T
|
23474776 |
2013 |
3 |
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
57
5
|
Meimaridou E...Metherell LA
|
22634753 |
2012 |
4 |
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child.
5
|
Mor-Shaked H...Harel T
|
33223529 |
2021 |
5 |
Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency.
57
|
Hershkovitz E...Parvari R
|
25879317 |
2015 |
6 |
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
57
|
Weinberg-Shukron A...Zangen D
|
26070314 |
2015 |
7 |
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
62
|
El-Bazzal L...Bernard-Marissal N
|
36314052 |
2022 |
8 |
Integrated Analysis of Cortex Single-Cell Transcriptome and Serum Proteome Reveals the Novel Biomarkers in Alzheimer's Disease.
62
|
Yu QS...Liu J
|
36009085 |
2022 |
9 |
Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients.
62
|
van de Velde ME...Kaspers GJL
|
35884569 |
2022 |
10 |
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
62
|
Yalcouye A...Wonkam A
|
35383421 |
2022 |
11 |
Atorvastatin reduces IOP in ocular hypertension in vivo and suppresses ECM in trabecular meshwork perhaps via FGD4.
62
|
Song XY...Zhang YY
|
35417030 |
2022 |
12 |
Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4.
62
|
Dittmer KE...Littlejohn MD
|
35300540 |
2022 |
13 |
Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening.
62
|
Aoki S...Ikeda Y
|
34148957 |
2021 |
14 |
Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes.
62
|
Reynolds EGM...Littlejohn MD
|
34045765 |
2021 |
15 |
Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma.
62
|
Yang Y...Zhang X
|
33709789 |
2021 |
16 |
Phase II study of eribulin in combination with gemcitabine for the treatment of patients with locally advanced or metastatic triple negative breast cancer (ERIGE trial). Clinical and pharmacogenetic results on behalf of the Gruppo Oncologico Italiano di Ricerca Clinica (GOIRC).
62
|
Pellegrino B...Musolino A
|
33399082 |
2021 |
17 |
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.
62
|
Yalcintepe S...Temel SG
|
34169998 |
2021 |
18 |
Genetic variation in Charcot-Marie-Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy.
62
|
Chen Y...Hertz DL
|
32700628 |
2020 |
19 |
MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle arrest in human cov434 cells by targeting FGD4.
62
|
Lin J...Huang J
|
32772928 |
2020 |
20 |
Global Gene Expression Characterization of Circulating Tumor Cells in Metastasic Castration-Resistant Prostate Cancer Patients.
62
|
Leon-Mateos L...Muinelo-Romay L
|
32630240 |
2020 |
21 |
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.
62
|
van der Weyden L...Adams DJ
|
32245826 |
2020 |
22 |
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
62
|
Mortreux J...Bonello-Palot N
|
31852984 |
2020 |
23 |
Identification of TYW3/CRYZ and FGD4 as susceptibility genes for amyotrophic lateral sclerosis.
62
|
Wei L...Wang K
|
31872054 |
2019 |
24 |
FGD4 (Frabin) Overexpression in Pancreatic Neuroendocrine Neoplasms.
62
|
Shahid M...Coppola D
|
31688594 |
2019 |
25 |
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.
62
|
Argente-Escrig H...Sevilla T
|
31152969 |
2019 |
26 |
Tswana traditional health practitioners' perspectives on the management of diabetes and hypertension: a qualitative study using focus group discussions.
62
|
Frimpong E...Nlooto M
|
31934236 |
2019 |
27 |
Expression of FGD4 positively correlates with the aggressive phenotype of prostate cancer.
62
|
Bossan A...Chakrabarti R
|
30558664 |
2018 |
28 |
Predictive biomarkers of chemotherapy-induced peripheral neuropathy: a review.
62
|
Diaz PL...DeAngelis C
|
30044129 |
2018 |
29 |
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
62
|
Dohrn MF...Biskup S
|
28902413 |
2017 |
30 |
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement.
62
|
Kondo D...Kira JI
|
28847448 |
2017 |
31 |
A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.
62
|
Zis P...Hadjivassiliou M
|
28543957 |
2017 |
32 |
Hyperglycaemic memory affects the neurovascular unit of the retina in a diabetic mouse model.
62
|
Friedrichs P...Hammes HP
|
28321468 |
2017 |
33 |
Mechanisms of Impaired Neutrophil Migration by MicroRNAs in Myelodysplastic Syndromes.
62
|
Cao M...Kimura J
|
28130497 |
2017 |
34 |
Genotypes of CYP2C8 and FGD4 and their association with peripheral neuropathy or early dose reduction in paclitaxel-treated breast cancer patients.
62
|
Lam SW...Boven E
|
27736846 |
2016 |
35 |
Sex-specific variation in signaling pathways and gene expression patterns in human leukocytes in response to endotoxin and exercise.
62
|
Abbasi A...Northoff H
|
27832807 |
2016 |
36 |
The other face of miR-17-92a cluster, exhibiting tumor suppressor effects in prostate cancer.
62
|
Ottman R...Chakrabarti R
|
27650539 |
2016 |
37 |
Testing of candidate single nucleotide variants associated with paclitaxel neuropathy in the trial NCCTG N08C1 (Alliance).
62
|
Boora GK...Beutler AS
|
26763541 |
2016 |
38 |
[Peroneal myoatrophy type 4H FGD4 new gene mutation in one case and literature review].
62
|
Yan C...Gao F
|
26957070 |
2016 |
39 |
Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
62
|
Hyun YS...Chung KW
|
26400421 |
2015 |
40 |
Silencing of Taxol-Sensitizer Genes in Cancer Cells: Lack of Sensitization Effects.
62
|
Huang SL...Chao CC
|
26086592 |
2015 |
41 |
Aluminum Nanoparticles Induce ERK and p38MAPK Activation in Rat Brain.
62
|
Kwon JT...Choi K
|
24386518 |
2013 |
42 |
Charcot-Marie-Tooth Neuropathy Type 4H – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
62
|
Delague V
|
23926620 |
2013 |
43 |
The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation.
62
|
Arai H...Tanabe Y
|
23770104 |
2013 |
44 |
A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
62
|
Boubaker C...Delague V
|
23550889 |
2013 |
45 |
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
62
|
Tazir M...Vallat JM
|
23781959 |
2013 |
46 |
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
62
|
Hayashi M...Hayasaka K
|
23466821 |
2013 |
47 |
p63RhoGEF-mediated formation of a single polarized lamellipodium is required for chemotactic migration in breast carcinoma cells.
62
|
Hayashi A...Mizuno K
|
23380069 |
2013 |
48 |
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.
62
|
Horn M...Suter U
|
23171661 |
2012 |
49 |
A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.
62
|
Baldwin RM...Kroetz DL
|
22843789 |
2012 |
50 |
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
62
|
Baudot C...Delague V
|
22734899 |
2012 |