Gabriel C. Dworschak
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View article: <i>TFAP2E</i>is implicated in central nervous system, orofacial and maxillofacial anomalies
<i>TFAP2E</i>is implicated in central nervous system, orofacial and maxillofacial anomalies Open
Background Previous studies in mouse, Xenopus and zebrafish embryos show strong tfap2e expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human…
View article: EZH2 specifically regulates ISL1 during embryonic urinary tract formation
EZH2 specifically regulates ISL1 during embryonic urinary tract formation Open
Isl1 has been described as an embryonic master control gene expressed in the pericloacal mesenchyme. Deletion of Isl1 from the genital mesenchyme in mice leads to an ectopic urethral opening and epispadias-like phenotype. Using genome wide…
View article: Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies Open
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3 . Affected individuals presented with an overlapping phenotypic spectrum comprisin…
View article: EZH2 specifically regulates<i>ISL1</i>during embryonic urinary tract formation
EZH2 specifically regulates<i>ISL1</i>during embryonic urinary tract formation Open
Isl1 has been described as an embryonic master control gene expressed in the pericloacal mesenchyme. Deletion of Isl1 from the genital mesenchyme in mice leads to an ectopic urethral opening and epispadias-like phenotype. Using genome wide…
View article: Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation Open
Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal …
View article: Modelling human lower urinary tract malformations in zebrafish
Modelling human lower urinary tract malformations in zebrafish Open
View article: X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems Open
Background SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associate…
View article: A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy Open
Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved i…
View article: Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations Open
View article: The Role of De Novo Variants in Formation of Human Anorectal Malformations
The Role of De Novo Variants in Formation of Human Anorectal Malformations Open
Anorectal malformations (ARM) represent a rare birth defect of the hindgut that occur in approximately 1 in 3000 live births. Around 60% of ARM occur with associated anomalies including defined genetic syndromes and associations with chrom…
View article: Exome survey of individuals affected by <scp>VATER</scp>/<scp>VACTERL</scp> with renal phenotypes identifies phenocopies and novel candidate genes
Exome survey of individuals affected by <span>VATER</span>/<span>VACTERL</span> with renal phenotypes identifies phenocopies and novel candidate genes Open
The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esopha…
View article: Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies Open
View article: Currarino syndrome: a comprehensive genetic review of a rare congenital disorder
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder Open
View article: Lessons Learned from CNV Analysis of Major Birth Defects
Lessons Learned from CNV Analysis of Major Birth Defects Open
The treatment of major birth defects are key concerns for child health. Hitherto, for the majority of birth defects, the underlying cause remains unknown, likely to be heterogeneous. The implicated mortality and/or reduced fecundity in maj…
View article: Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations Open
View article: A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies Open
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate…
View article: Expanding the knowledge on development of CAKUT: molecular genetics and beyond
Expanding the knowledge on development of CAKUT: molecular genetics and beyond Open
We would like to thank Dr. Fernandez-Prado, Dr. Kanbay, Dr. Ortiz, and Dr. Perez-Gomez for their insightful comments on the genetics of CAKUT (congenital abnormalities of the kidney and urinary tract), the zinc finger protein BNC2, and spe…
View article: Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction Open
View article: De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia
De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia Open
Background: Congenital diaphragmatic hernia (CDH) is a rare defect of the diaphragm commonly associated with high morbidity and mortality due to lung hypoplasia and pulmonary hypertension. Although in 70% of patients the etiology of a CDH …
View article: Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance Open
View article: Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract Open
Our results indicate that mutations affecting mature microRNAs in individuals with CAKUT are rare and thus most likely not a common cause of CAKUT in humans.
View article: Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association Open
The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and l…
View article: Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease
Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease Open
Our results reveal a significantly poorer QOL and increasing psychosocial risk with markers of disease progression in patients, particularly women, with ADPKD prior to starting RRT. The future management strategy of ADPKD should address th…
View article: Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract Open
View article: FP364INCREASED PSYCHOSOCIAL BURDEN AND ADVERSE QUALITY OF LIFE IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
FP364INCREASED PSYCHOSOCIAL BURDEN AND ADVERSE QUALITY OF LIFE IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Open