Steve Seltzsam
A5050485240- Renal and related cancers
- Renal cell carcinoma treatment
- Genetic and Kidney Cyst Diseases
- Pediatric Urology and Nephrology Studies
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Urinary Bladder and Prostate Research
- Ubiquitin and proteasome pathways
- Urological Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- Spinal Dysraphism and Malformations
- Cancer, Hypoxia, and Metabolism
- Cancer-related Molecular Pathways
- Epigenetics and DNA Methylation
- Renal Diseases and Glomerulopathies
- Pancreatic function and diabetes
- Cancer Genomics and Diagnostics
- Neuroscience of respiration and sleep
- Histone Deacetylase Inhibitors Research
- Celiac Disease Research and Management
- Cell death mechanisms and regulation
- Head and Neck Cancer Studies
- PARP inhibition in cancer therapy
- Single-cell and spatial transcriptomics
Harvard University
2020-2025
Boston Children's Hospital
2020-2025
Boston Children's Museum
2020-2023
Philipps University of Marburg
2018
// Frank Ziemann 1 , Steve Seltzsam Kristin Dreffke Stefanie Preising Andrea Arenz Florentine S.B. Subtil Thorsten Rieckmann 2, 3 Rita Engenhart-Cabillic Ekkehard Dikomey 1, 2 and Wittig Department of Radiotherapy Radiooncology, Philipps-University Marburg, University Hospital Gießen Germany Laboratory for Radiobiology & Experimental Medical Center Hamburg Eppendorf, Hamburg, Otolaryngology Head Neck Surgery, Correspondence to: Wittig, email: andrea.wittig@staff.uni-marburg.de...
Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in . Affected presented an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS and congenital of the kidneys urinary tract (CAKUT) (3/12) CAKUT only (2/12). Computational simulation 3D protein structure suggests position identified to be implicated penetrance phenotype expression....
Human papillomavirus (HPV) associated squamous cell carcinomas of the head and neck region (HPV+ HNSCCs) harbor diverging biological features as compared to classical noxa-induced (HPV-) HNSCC. One striking difference between subtypes is that tumor suppressor gene TP53 usually not mutated in HPV+ HNSCCs. However, p53 inhibited by viral oncoprotein E6, leading premature proteasomal degradation. We asked whether bortezomib (BZM), a clinically approved inhibitor proteasome, can functionally...
Congenital anomalies of the kidneys and urinary tract (CAKUT) are most common cause chronic kidney disease among children adults younger than 30 yr. In our previous study, whole-exome sequencing (WES) identified a known monogenic isolated or syndromic CAKUT in 13% families with CAKUT. However, WES has limitations detection copy number variations (CNV) is technically challenging, CNVs causative have previously been detected up to 16% cases.
Abstract Neurogenic bladder is caused by disruption of neuronal pathways regulating relaxation and contraction. In severe cases, neurogenic can lead to vesicoureteral reflux, hydroureter, chronic kidney disease. These complications overlap with manifestations congenital anomalies the urinary tract (CAKUT). To identify novel monogenic causes bladder, we applied exome sequencing (ES) our cohort families CAKUT. By ES, have identified a homozygous missense variant (p.Gln184Arg) in CHRM5 (...
Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute most common cause chronic kidney disease in first three decades life. Variants four Forkhead box (FOX) transcription factors have been associated with CAKUT. We hypothesized that other FOX genes, if highly expressed developing kidneys, may also represent monogenic causes
Spina bifida (SB) is the second most common nonlethal congenital malformation. The existence of monogenic SB mouse models and human syndromes with features indicate that may be caused by genes. We hypothesized whole exome sequencing (WES) allows identification potential candidate genes (i) generating a list 136 for SB, (ii) unbiased exome-wide analysis. generated from three categories evaluated WES data 50 unrelated cases likely deleterious variants in genes, exome-wide. identified 6 cases,...
Abstract Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute most common cause early‐onset chronic kidney disease. In a previous study, we identified heterozygous truncating variant in nuclear receptor‐interacting protein 1 ( NRIP1 ) as CAKUT causing via dysregulation retinoic acid signaling. This large family remains only with reported so far. Here, describe one additional . By whole‐exome sequencing, frameshift (p.Asn676Lysfs*27) an isolated patient bilateral...
Significance Statement About 40 disease genes have been described to date for isolated CAKUT, the most common cause of CKD during childhood. However, mutations in these explain only 20% cases. The authors performed exome sequencing an international cohort individuals with CAKUT. They identified genetic variants ARHGEF6 (a gene on X chromosome humans that encodes a guanine nucleotide exchange factor) as potential novel this disease. Using multifaceted approach, including cellular and...
ABSTRACT Lower urinary tract dysfunction (LUTD) can manifest as a spectrum of voiding symptoms in childhood, including urgency, frequency, hesitancy, and incontinence. In severe cases, it lead to frequent infections, hydronephrosis, kidney scarring, chronic disease. Non‐neurogenic neurogenic bladder (NNNB) is diagnosis exclusion which children develop discoordination between the detrusor smooth muscle external urethral sphincter absence neurological or obstructive lesions, resulting LUTD....
Abstract Congenital anomalies of the kidney and urinary tract (CAKUT) are most prevalent cause chronic disease that manifests in children. To date ~23 different monogenic causes have been implicated isolated forms human CAKUT, but vast majority remains elusive. In a previous study, we identified homozygous missense variant E26 transformation‐specific (ETS) Variant Transcription Factor 4 ( ETV4 ) causing CAKUT via dysregulation transcriptional function ETV4, resulting abrogation GDNF/RET/ETV4...
Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) are most common cause chronic disease in first 3 decades life. Over 40 genes have been identified as causative for isolated human CAKUT. However, many remain unknown, prioritization potential CAKUT candidate is challenging. To develop an independent approach to prioritize genes, we hypothesized that monogenic likely co-expressed along a temporal axis during development with coinciding high expression may represent...
Mann, Nina; Hiltebeitel, Lily; Seltzsam, Steve; Wang, Chunyan; Shril, Shirlee; Hildebrandt, Friedhelm Author Information