Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.
Sign Up to like & getrecommendations! Published in 2017 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2017.09.029
Abstract: Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type… read more here.
Keywords: mutations causing; waardenburg syndrome; pax3 mutations; novel pax3 ... See more keywords
New FIG4 gene mutations causing aggressive ALS
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Neurology"
DOI: 10.1111/ene.13559
Abstract: C. Bertolin* , G. Querin* , V. Bozzoni, I. Martinelli, M. De Bortoli, A. Rampazzo, C. Gellera, E. Pegoraro and G. Sorar u Department of Neurosciences, Neuromuscular Center, University of Padova, Padova, Department of Biology,… read more here.
Keywords: fig4 gene; causing aggressive; mutations causing; gene mutations ... See more keywords
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine
Sign Up to like & getrecommendations! Published in 2017 at "BMC Genomics"
DOI: 10.1186/s12864-017-3913-1
Abstract: BackgroundCystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter are known… read more here.
Keywords: medicine; associating mutations; mutations causing; disease ... See more keywords
RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.1041315
Abstract: Purpose Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is an important regulator of necroptosis and inflammatory responses. We present the clinical features, genetic analysis and immune work-up of two patients with infantile-onset inflammatory bowel disease (IBD) resulting… read more here.
Keywords: ripk1 mutations; mutations causing; patient; inflammatory ... See more keywords
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22105180
Abstract: The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms, paroxysmal events or… read more here.
Keywords: mutations causing; early onset; onset ataxia; cacna1a mutations ... See more keywords
Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Neurosciences"
DOI: 10.4103/jpn.jpn_45_17
Abstract: This report details two novel RAB3GAP1 mutations causing Warburg Micro syndrome, a rare autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Two Italian sisters were referred to our… read more here.
Keywords: mutations causing; warburg micro; micro syndrome; novel rab3gap1 ... See more keywords