Pretraga

Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 999228

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

van der Ven, Amelie; Connaughton, Dervla; Ityel, Hadas; Mann, Nina; Nakayama, Makiko; Chen, Jing; Vivante, Asaf; Hwang, Daw-yang; Schulz, Julian; Braun, Daniela et al.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract // Journal of the American Society of Nephrology, 29 (2018), 9; 2348-2361 doi:10.1681/ASN.2017121265 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 999228 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

Autori
Van der Ven, Amelie ; Connaughton, Dervla ; Ityel, Hadas ; Mann, Nina ; Nakayama, Makiko ; Chen, Jing ; Vivante, Asaf ; Hwang, Daw-yang ; Schulz, Julian ; Braun, Daniela ; Schmidt, Johanna Magdalena ; Schapiro, David ; Schneider, Ronen ; Warejko, Jillian ; Daga, Ankana ; Majmundar, Amar ; Tan, Weizhen ; Jobst- Schwan, Tilman ; Hermle, Tobias ; Widmeier, Eugen ; Ashraf, Shazia ; Amar, Ali ; Hoogstraaten, Charlotte ; Hugo, Hannah ; Kitzler, Thomas ; Kause, Franziska ; Kolvenbach, Caroline ; Dai, Rufeng ; Spaneas, Leslie ; Amann, Kassaundra ; Stein, Deborah ; Baum, Michelle ; Somers, Michael ; Rodig, Nancy ; Ferguson, Michael ; Traum, Avram ; Daouk, Ghaleb ; Bogdanović, Radovan ; Stajić, Natasa ; Soliman, Neveen ; Kari, Jameela ; El Desoky, Sherif ; Fathy, Hanan ; Milosevic, Danko ; Al-Saffar, Muna ; Awad, Hazem ; Eid, Loai ; d Selvin, Aravin ; Senguttuvan, Prabha ; Sanna- Cherchi, Simone ; Rehm, Heidi ; MacArthur, Daniel ; Lek, Monkol ; Laricchia, Kristen ; Wilson, Michael ; Mane, Shrikant ; Lifton, Richard ; Lee, Richard ; Bauer, Stuart ; Lu, Weining ; Reutter, Heiko ; Tasic, Velibor ; Shril, Shirlee ; Hildebrandt Friedhelm.

Izvornik
Journal of the American Society of Nephrology (1046-6673) 29 (2018), 9; 2348-2361

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) ; Vesico-ureteral Reflux (VUR) ; Whole Exome Sequencing (WES) ; monogenic disease causation ; renal developmental gene

Sažetak
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life. Previous gene panel studies showed monogenic causation in up to 12% of patients with CAKUT. METHODS: We applied whole-exome sequencing to analyze the genotypes of individuals from 232 families with CAKUT, evaluating for mutations in single genes known to cause human CAKUT and genes known to cause CAKUT in mice. In consanguineous or multiplex families, we additionally performed a search for novel monogenic causes of CAKUT. RESULTS: In 29 families (13%), we detected a causative mutation in a known gene for isolated or syndromic CAKUT that sufficiently explained the patient's CAKUT phenotype. In three families (1%), we detected a mutation in a gene reported to cause a phenocopy of CAKUT. In 15 of 155 families with isolated CAKUT, we detected deleterious mutations in syndromic CAKUT genes. Our additional search for novel monogenic causes of CAKUT in consanguineous and multiplex families revealed a potential single, novel monogenic CAKUT gene in 19 of 232 families (8%). CONCLUSIONS: We identified monogenic mutations in a known human CAKUT gene or CAKUT phenocopy gene as the cause of disease in 14% of the CAKUT families in this study. Whole- exome sequencing provides an etiologic diagnosis in a high fraction of patients with CAKUT and will provide a new basis for the mechanistic understanding of CAKUT

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Danko Milošević (autor)

Poveznice na cjeloviti tekst rada:

doi www.ncbi.nlm.nih.gov

Citiraj ovu publikaciju:

van der Ven, Amelie; Connaughton, Dervla; Ityel, Hadas; Mann, Nina; Nakayama, Makiko; Chen, Jing; Vivante, Asaf; Hwang, Daw-yang; Schulz, Julian; Braun, Daniela et al.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract // Journal of the American Society of Nephrology, 29 (2018), 9; 2348-2361 doi:10.1681/ASN.2017121265 (međunarodna recenzija, članak, znanstveni)
Van der Ven, A., Connaughton, D., Ityel, H., Mann, N., Nakayama, M., Chen, J., Vivante, A., Hwang, D., Schulz, J. & Braun, D. (2018) Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. Journal of the American Society of Nephrology, 29 (9), 2348-2361 doi:10.1681/ASN.2017121265.
@article{article, author = {van der Ven, Amelie and Connaughton, Dervla and Ityel, Hadas and Mann, Nina and Nakayama, Makiko and Chen, Jing and Vivante, Asaf and Hwang, Daw-yang and Schulz, Julian and Braun, Daniela and Schmidt, Johanna Magdalena and Schapiro, David and Schneider, Ronen and Warejko, Jillian and Daga, Ankana and Majmundar, Amar and Tan, Weizhen and Jobst- Schwan, Tilman and Hermle, Tobias and Widmeier, Eugen and Ashraf, Shazia and Amar, Ali and Hoogstraaten, Charlotte and Hugo, Hannah and Kitzler, Thomas and Kause, Franziska and Kolvenbach, Caroline and Dai, Rufeng and Spaneas, Leslie and Amann, Kassaundra and Stein, Deborah and Baum, Michelle and Somers, Michael and Rodig, Nancy and Ferguson, Michael and Traum, Avram and Daouk, Ghaleb and Bogdanovi\'{c}, Radovan and Staji\'{c}, Natasa and Soliman, Neveen and Kari, Jameela and El Desoky, Sherif and Fathy, Hanan and Milosevic, Danko and Al-Saffar, Muna and Awad, Hazem and Eid, Loai and d Selvin, Aravin and Senguttuvan, Prabha and Sanna- Cherchi, Simone and Rehm, Heidi and MacArthur, Daniel and Lek, Monkol and Laricchia, Kristen and Wilson, Michael and Mane, Shrikant and Lifton, Richard and Lee, Richard and Bauer, Stuart and Lu, Weining and Reutter, Heiko and Tasic, Velibor and Shril, Shirlee}, year = {2018}, pages = {2348-2361}, DOI = {10.1681/ASN.2017121265}, keywords = {Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), Vesico-ureteral Reflux (VUR), Whole Exome Sequencing (WES), monogenic disease causation, renal developmental gene}, journal = {Journal of the American Society of Nephrology}, doi = {10.1681/ASN.2017121265}, volume = {29}, number = {9}, issn = {1046-6673}, title = {Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract}, keyword = {Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), Vesico-ureteral Reflux (VUR), Whole Exome Sequencing (WES), monogenic disease causation, renal developmental gene} }
@article{article, author = {van der Ven, Amelie and Connaughton, Dervla and Ityel, Hadas and Mann, Nina and Nakayama, Makiko and Chen, Jing and Vivante, Asaf and Hwang, Daw-yang and Schulz, Julian and Braun, Daniela and Schmidt, Johanna Magdalena and Schapiro, David and Schneider, Ronen and Warejko, Jillian and Daga, Ankana and Majmundar, Amar and Tan, Weizhen and Jobst- Schwan, Tilman and Hermle, Tobias and Widmeier, Eugen and Ashraf, Shazia and Amar, Ali and Hoogstraaten, Charlotte and Hugo, Hannah and Kitzler, Thomas and Kause, Franziska and Kolvenbach, Caroline and Dai, Rufeng and Spaneas, Leslie and Amann, Kassaundra and Stein, Deborah and Baum, Michelle and Somers, Michael and Rodig, Nancy and Ferguson, Michael and Traum, Avram and Daouk, Ghaleb and Bogdanovi\'{c}, Radovan and Staji\'{c}, Natasa and Soliman, Neveen and Kari, Jameela and El Desoky, Sherif and Fathy, Hanan and Milosevic, Danko and Al-Saffar, Muna and Awad, Hazem and Eid, Loai and d Selvin, Aravin and Senguttuvan, Prabha and Sanna- Cherchi, Simone and Rehm, Heidi and MacArthur, Daniel and Lek, Monkol and Laricchia, Kristen and Wilson, Michael and Mane, Shrikant and Lifton, Richard and Lee, Richard and Bauer, Stuart and Lu, Weining and Reutter, Heiko and Tasic, Velibor and Shril, Shirlee}, year = {2018}, pages = {2348-2361}, DOI = {10.1681/ASN.2017121265}, keywords = {Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), Vesico-ureteral Reflux (VUR), Whole Exome Sequencing (WES), monogenic disease causation, renal developmental gene}, journal = {Journal of the American Society of Nephrology}, doi = {10.1681/ASN.2017121265}, volume = {29}, number = {9}, issn = {1046-6673}, title = {Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract}, keyword = {Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), Vesico-ureteral Reflux (VUR), Whole Exome Sequencing (WES), monogenic disease causation, renal developmental gene} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

Citati:

    Altmetrijski pokazatelji:


    Podijeli:





    Contrast
    Increase Font
    Decrease Font
    Dyslexic Font
    CROSBI koristi kolačiće (cookies) kako bi poboljšao funkcionalnost stranice.