Shrikant M Mane
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Explore the profile of Shrikant M Mane including associated specialties, affiliations and a list of published articles.
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62
Citations
12512
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Recent Articles
1.
Deutsch K, Klambt V, Kitzler T, Jobst-Schwan T, Schneider R, Buerger F, et al.
Genes Dis
. 2024 Jun;
11(5):101111.
PMID: 38868576
No abstract available.
2.
Wu C, Lim T, Wang C, Seltzsam S, Zheng B, Schierbaum L, et al.
Eur Urol Open Sci
. 2022 Oct;
44:106-112.
PMID: 36185583
Background: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease among children and adults younger than 30 yr. In our previous...
3.
Liu Y, Helgadottir H, Kharaziha P, Choi J, Lopez-Giraldez F, Mane S, et al.
Biomedicines
. 2022 May;
10(5).
PMID: 35625741
Breast cancer is the most prevalent malignancy among women worldwide and hereditary breast cancer (HBC) accounts for about 5−10% of the cases. Today, the most recurrent genes known are BRCA1...
4.
Wang C, Seltzsam S, Zheng B, Wu C, Nicolas-Frank C, Yousef K, et al.
Am J Med Genet A
. 2022 Jan;
188(5):1355-1367.
PMID: 35040250
Spina bifida (SB) is the second most common nonlethal congenital malformation. The existence of monogenic SB mouse models and human monogenic syndromes with SB features indicate that human SB may...
5.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton D, Wu C, et al.
Genet Med
. 2021 Dec;
24(2):307-318.
PMID: 34906515
Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT...
6.
Richard E, Bakhtiari S, Marsh A, Kaiyrzhanov R, Wagner M, Shetty S, et al.
Am J Hum Genet
. 2021 Oct;
108(10):2006-2016.
PMID: 34626583
Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals...
7.
Mann N, Mzoughi S, Schneider R, Kuhl S, Schanze D, Klambt V, et al.
J Am Soc Nephrol
. 2021 Feb;
32(3):580-596.
PMID: 33593823
Background: Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant nephrotic syndrome. The prognosis of GAMOS is poor, and the majority of...
8.
Jin S, Lewis S, Bakhtiari S, Zeng X, Sierant M, Shetty S, et al.
Nat Genet
. 2021 Jan;
53(3):412.
PMID: 33432185
No abstract available.
9.
Jin S, Lewis S, Bakhtiari S, Zeng X, Sierant M, Shetty S, et al.
Nat Genet
. 2020 Sep;
52(10):1046-1056.
PMID: 32989326
In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in...
10.
Connaughton D, Dai R, Owen D, Marquez J, Mann N, Graham-Paquin A, et al.
Am J Hum Genet
. 2020 Sep;
107(4):727-742.
PMID: 32891193
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first...