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Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5％of 320 families with steroid-resistant nephrotic syndrome

Ronen Schneider Verena Klämbt Muhammad Y.Zahoor Katharina Lemberg Amar J.Majmundar Bshara Mansour Ken Saida Steve Seltzsam Caroline M.Kolvenbach Lea Maria Merz Nils D.Mertens Shirlee Shril Tobias Hermle Nina Mann Dalia Pantel Abdul A.Halawi Aaron Bao Luca Schierbaum Sophia Schneider Daanya Salmanullah Iddo Z.Ben-Dov Itamar Sagiv Florian Buerger Loai A.Eid Hazem Subhi H.Awad Muna Al Saffar Neveen A.Soliman Marwa M.Nabhan Jameela A.Kari Sherif El Desoky Mohamed A.Shalaby Said Ooda Hanan M.Fathy Konstantin Deutsch Shrikant Mane Richard P.Lifton Michael J.G.Somers Friedhelm Hildebrandt Kirollos Yousef Camille N.Frank Ana C.Onuchic-Whitford Thomas M.Kitzler Youying Mao

基因与疾病（英文）2025，Vol.12Issue(2)：25-28,4.

基因与疾病（英文）2025，Vol.12Issue(2)：25-28,4.DOI:10.1016/j.gendis.2024.101280

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5％of 320 families with steroid-resistant nephrotic syndrome

Ronen Schneider ¹Verena Klämbt ¹Muhammad Y.Zahoor ²Katharina Lemberg ¹Amar J.Majmundar ¹Bshara Mansour ¹Ken Saida ¹Steve Seltzsam ¹Caroline M.Kolvenbach ³Lea Maria Merz ⁴Nils D.Mertens ¹Shirlee Shril ¹Tobias Hermle ¹Nina Mann ¹Dalia Pantel ⁵Abdul A.Halawi ¹Aaron Bao ¹Luca Schierbaum ¹Sophia Schneider ¹Daanya Salmanullah ¹Iddo Z.Ben-Dov ⁶Itamar Sagiv ⁶Florian Buerger ¹Loai A.Eid ⁷Hazem Subhi H.Awad ⁷Muna Al Saffar ⁸Neveen A.Soliman ⁹Marwa M.Nabhan ¹⁰Jameela A.Kari ¹⁰Sherif El Desoky ¹⁰Mohamed A.Shalaby ¹⁰Said Ooda ¹¹Hanan M.Fathy ¹²Konstantin Deutsch ¹Shrikant Mane ¹³Richard P.Lifton ¹³Michael J.G.Somers ¹Friedhelm Hildebrandt ¹Kirollos Yousef ¹Camille N.Frank ¹Ana C.Onuchic-Whitford ¹⁴Thomas M.Kitzler ¹Youying Mao¹

作者信息

1. Department of Pediatrics,Boston Children's Hospital,Harvard Medical School,Boston,MA 02115,USA
2. Department of Pediatrics,Boston Children's Hospital,Harvard Medical School,Boston,MA 02115,USA||Institute of Biochemistry & Biotechnology,University of Veterinary & Animal Sciences,Lahore 54000,Pakistan
3. Department of Pediatrics,Boston Children's Hospital,Harvard Medical School,Boston,MA 02115,USA||Institute of Anatomy,Medical Faculty,University of Bonn,Bonn D-53113,Germany
4. Department of Pediatrics,Boston Children's Hospital,Harvard Medical School,Boston,MA 02115,USA||Department of Pediatrics,University Hospital Leipzig,Leipzig 04103,Germany
5. Department of Pediatrics,Boston Children's Hospital,Harvard Medical School,Boston,MA 02115,USA||Institute of Human Genetics,Heidelberg University,Heidelberg 69117,Germany
6. Department of Nephrology and Hypertension,Hadassah Medical Center and the Faculty of Medicine,Hebrew University of Jerusalem,Jerusalem 91120,Israel
7. Pediatric Nephrology Department,Dubai Hospital,Dubai 14660,United Arab Emirates
8. Department of Pediatrics,Boston Children's Hospital,Harvard Medical School,Boston,MA 02115,USA||Department of Pediatrics,United Arab Emirates University,Abu Dhabi 15551,United Arab Emirates
9. Department of Pediatrics,Center of Pediatric Nephrology& Transplantation,Kasr Al Ainy School of Medicine,Cairo University,Cairo 11562,Egypt||Egyptian Group for Orphan Renal Diseases(EGORD),Cairo 11451,Egypt
10. Department of Pediatrics,Faculty of Medicine,King Abdulaziz University,Jeddah 21589,Saudi Arabia||Pediatric Nephrology Center of Excellence,King Abdulaziz University Hospital,Jeddah 21589,Saudi Arabia
11. Experimental and Clinical Internal Medicine Department,Medical Research Institute,Alexandria University,Alexandria 21511,Egypt
12. Department of Pediatrics,Faculty of Medicine,Alexandria University,Alexandria 21526,Egypt
13. Department of Genetics,Yale University School of Medicine,New Haven,CT 06510,USA
14. Department of Pediatrics,Boston Children's Hospital,Harvard Medical School,Boston,MA 02115,USA||Division of Renal Medicine,Department of Medicine,Brigham and Women's Hospital,Harvard Medical School,Boston,MA 02115,USA
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Ronen Schneider,Verena Klämbt,Muhammad Y.Zahoor,Katharina Lemberg,Amar J.Majmundar,Bshara Mansour,Ken Saida,Steve Seltzsam,Caroline M.Kolvenbach,Lea Maria Merz,Nils D.Mertens,Shirlee Shril,Tobias Hermle,Nina Mann,Dalia Pantel,Abdul A.Halawi,Aaron Bao,Luca Schierbaum,Sophia Schneider,Daanya Salmanullah,Iddo Z.Ben-Dov,Itamar Sagiv,Florian Buerger,Loai A.Eid,Hazem Subhi H.Awad,Muna Al Saffar,Neveen A.Soliman,Marwa M.Nabhan,Jameela A.Kari,Sherif El Desoky,Mohamed A.Shalaby,Said Ooda,Hanan M.Fathy,Konstantin Deutsch,Shrikant Mane,Richard P.Lifton,Michael J.G.Somers,Friedhelm Hildebrandt,Kirollos Yousef,Camille N.Frank,Ana C.Onuchic-Whitford,Thomas M.Kitzler,Youying Mao..Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5％of 320 families with steroid-resistant nephrotic syndrome[J].基因与疾病（英文）,2025,12(2):25-28,4.

基金项目

This research is supported by grants from the National In-stitutes of Health(NIH)(No.5R01DK076683-13,RC2-DK122397 to F.H.).Sequencing and data processing were performed by the Yale Centers for Mendelian Genomics funded by the National Human Genome Research Institute(No.U54 HG006504).R.S.is supported by the Office of Faculty Development.K.Y.,C.N.F.,and N.D.M.are sup-ported by an NIH Training Grant(No.5T32DK007726)and by the 2017 Post-doctoral Fellowship Grant from the Harvard Stem Cell Institute.A.C.O.acknowledges support from the National Institutes of Health F32 Ruth L.Kirschstein Post-doctoral Individual National Research Service Award(No.DK122766).T.M.K.was supported by a Post-Doctoral Fellowship award from the KRESCENT Program,a national kidney research training partnership of the Kidney Foun-dation of Canada,the Canadian Society of Nephrology,and the Canadian Institutes of Health Research.V.K.is funded by the Deutsche Forschungsgemeinschaft grant(No.403877094).M.Y.Z.was supported by a Fulbright Scholar fellowship(USEFP).K.L.is funded by the Deutsche For-schungsgemeinschaft Research Foundation(No.DFG461126211).A.J.M.is supported by the NIH(No.5K12HD052896-13,1K08DK125768-01A1),American Society of Nephrology Norman Siegel Research Scholar Grant,and Manton Center for Orphan Disease Research.S.Se.was supported by the Deutsche Forschungsgemeinschaft(German Research Foundation （NIH）

No.442070894).C.M.K.is supported by a grant from the Deutsche For-schungsgemeinschaft(German Research Foundation （）

No.KO 6579/2-1).N.M.is supported by funding from the Na-tional Institutes of Health(No.K08-DK127011).This research was also supported by the Jiang-Li Family Foundation. （No.K08-DK127011）

基因与疾病（英文）

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