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Last update 08 May 2025

DNAH14

Last update 08 May 2025

Basic Info

Synonyms

Axonemal beta dynein heavy chain 14, C1orf67, Ciliary dynein heavy chain 14

+ [7]

Introduction

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).

Drugs associated with DNAH14

CN118291627

Patent Mining

Target

DNAH14

Mechanism-

Active Org.

Wenzhou Medical College

Originator Org.

Wenzhou Medical College

Active Indication

Neoplasms

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with DNAH14

100 Translational Medicine associated with DNAH14

0 Patents (Medical) associated with DNAH14

Literatures (Medical) associated with DNAH14

01 Feb 2025·American Journal of Hematology

Blood Plasma Methylated DNA Markers in the Detection of Lymphoma: Discovery, Validation, and Clinical Pilot

Article

Author: Katerov, Slava ; Graham, Rondell P. ; Jevremovic, Dragan ; Novak, Anne J. ; Burger, Kelli N. ; Berger, Calise K. ; Mahoney, Douglas W. ; O'Connell, Maria C. ; Taylor, William R. ; Cerhan, James R. ; Witzig, Thomas E. ; Allawi, Hatim T. ; Dao, Linda N. ; Foote, Patrick H. ; Kisiel, John B. ; Hennek, Jacquelyn ; Bamlet, William R. ; Doering, Karen A. ; Devens, Mary E. ; Arndt, Jacquelyn R.

ABSTRACTLymphoma is one of the leading causes of cancer and cancer deaths and yet has not been amenable to population screening. The role of methylated DNA markers (MDMs) in the detection of lymphoma has not been extensively studied. We aimed to discover, validate, and test tissue–derived MDMs of lymphoma in archival plasma specimens. Reduced representation bisulfite sequencing (RRBS) was performed on a discovery set of frozen tissues. MDMs identified were converted to methylation–specific PCR assays and validated on independent formalin–fixed, paraffin‐embedded (FFPE) tissues. Target enrichment long–probe quantitative‐amplified signal (TELQAS) assays were developed and assayed in plasma–extracted, bisulfite‐converted DNA from independent treatment‐naïve lymphoma patients and healthy controls. Prediction of cancer status was modeled using random forest model with in silico cross‐validation. After discovery and validation in tissue, 16 TELQAS assays (ZNF503, VWA5B1, HOXA9, GABRG3, ITGA5, MAX.chr17.7190, BNC1, CDK20, MAX.chr4.4069, TPBG, DNAH14, SYT6, CACNG8, FAM110B, ADRA1D, and NRN1) were selected for testing in plasma. These detected 78% (95% CI, 74%–82%) of lymphoma cases at 90% specificity. Excluding marginal zone and T‐cell lymphomas, sensitivity increased to 84% (80%–88%). MDMs in plasma show promise to detect lymphoma and are candidates for inclusion in multi‐cancer detection studies.

01 Nov 2024·Clinical Genetics

Genetics of 67 patients of suspected primary ciliary dyskinesia from India

Article

Author: Faruq, Mohammed ; Mathews, Susi ; Shamim, Uzma ; Jindal, Shishir ; Soni, Akshita ; Kabra, Sushil K. ; Lodha, Rakesh ; Ahuja, Vanshika ; Sharma, Pooja ; Arava, Sudheer K. ; Jat, Kana Ram ; Yadav, Subhash C. ; Uppilli, Bharathram ; Bari, Shreya

AbstractData are limited on the genetic profile of primary ciliary dyskinesia (PCD) from developing countries. Here, we report one of the first study on genetic profile of patients with suspected PCD from India. In this prospective cross‐sectional study, we enrolled 162 children with suspected PCD. We recorded clinical features, relevant laboratory tests for PCD and performed whole exome sequencing (WES). We are reporting 67 patients here who had positive variant/s on WES. We had 117 variants in 40 genes among 67 patients. Among the 108 unique variants, 33 were categorized as pathogenic or likely pathogenic (P/LP). We had nine novel variants in out cohort. The 29 definite PCD cases, diagnosed by composite reference standards, had variants in 16 genes namely LRRC6/DNAAF11 (5), DNAH5 (3), CCDC39 (3), HYDIN (3), DNAH11 (2), CCDC40 (2), CCDC65 (2) and one each DNAAF3, DNAAF2, CFAP300, RPGR, CCDC103, CCDC114, SPAG1, DNAI1, and DNAH14. To conclude, we identified 108 unique variants in 40 genes among 67 patients. The common genes involved in definite cases of PCD in Indian patients were LRRC6, DNAH5, CCDC39, and HYDIN. Our findings suggest a need to develop a separate genetic panel for PCD in the Indian population.

01 Jul 2024·International Journal of Cancer

Targeted DNA sequencing of high‐grade serous ovarian carcinoma reveals association of TP53 mutations with platinum resistance when combined with gene expression

Article

Author: Rob, Lukáš ; Tesařová, Tereza ; Bouda, Jiří ; Hlaváč, Viktor ; Mrhalová, Marcela ; Václavíková, Radka ; Šeborová, Karolína ; Al Obeed Allah, Mohammad ; Souček, Pavel ; Špaček, Jiří ; Hruda, Martin ; Šůsová, Simona ; Holý, Petr ; Kopečková, Kateřina ; Sedláková, Iva ; Bartáková, Alena

AbstractHigh‐grade serous ovarian carcinoma (HGSC) is the most common subtype of ovarian cancer and is among the most fatal gynecological malignancies worldwide, due to late diagnosis at advanced stages and frequent therapy resistance. In 47 HGSC patients, we assessed somatic and germline genetic variability of a custom panel of 144 known or suspected HGSC‐related genes by high‐coverage targeted DNA sequencing to identify the genetic determinants associated with resistance to platinum‐based therapy. In the germline, the most mutated genes were DNAH14 (17%), RAD51B (17%), CFTR (13%), BRCA1 (11%), and RAD51 (11%). Somatically, the most mutated gene was TP53 (98%), followed by CSMD1/2/3 (19/19/36%), and CFTR (23%). Results were compared with those from whole exome sequencing of a similar set of 35 HGSC patients. Somatic variants in TP53 were also validated using GENIE data of 1287 HGSC samples. Our approach showed increased prevalence of high impact somatic and germline mutations, especially those affecting splice sites of TP53, compared to validation datasets. Furthermore, nonsense TP53 somatic mutations were negatively associated with patient survival. Elevated TP53 transcript levels were associated with platinum resistance and presence of TP53 missense mutations, while decreased TP53 levels were found in tumors carrying mutations with predicted high impact, which was confirmed in The Cancer Genome Atlas data (n = 260). Targeted DNA sequencing of TP53 combined with transcript quantification may contribute to the concept of precision oncology of HGSC. Future studies should explore targeting the p53 pathway based on specific mutation types and co‐analyze the expression and mutational profiles of other key cancer genes.

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DNAH14

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