Kelch-like proteins: Physiological functions and relationships with diseases
X Shi, S Xiang, J Cao, H Zhu, B Yang, Q He… - Pharmacological …, 2019 - Elsevier
Kelch-like gene family members (KLHLs) encode proteins with a bric-a-brac, tramtrack,
broad complex (BTB)/poxvirus and zinc finger (POZ) domain, a BACK domain, and six Kelch …
broad complex (BTB)/poxvirus and zinc finger (POZ) domain, a BACK domain, and six Kelch …
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual …
S Nambot, J Thevenon, P Kuentz, Y Duffourd… - Genetics in …, 2018 - nature.com
Purpose Congenital anomalies and intellectual disability (CA/ID) are a major diagnostic
challenge in medical genetics—50% of patients still have no molecular diagnosis after a …
challenge in medical genetics—50% of patients still have no molecular diagnosis after a …
[HTML][HTML] Molecular epidemiology in 591 Italian probands with nonsyndromic retinitis pigmentosa and usher syndrome
L Colombo, PE Maltese, M Castori… - … & Visual Science, 2021 - tvst.arvojournals.org
Purpose: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP)
and Usher syndrome (US) in Italian patients. Methods: A total of 591 probands (315 with …
and Usher syndrome (US) in Italian patients. Methods: A total of 591 probands (315 with …
Genetic disposition to primary hyperhidrosis: a review of literature
Primary hyperhidrosis is a condition characterized by excessive sweating. The estimated
prevalence is between 0.6 and 4.4%, and it can have economic, psychological, and social …
prevalence is between 0.6 and 4.4%, and it can have economic, psychological, and social …
RIT1 oncoproteins escape LZTR1-mediated proteolysis
RIT1 oncoproteins have emerged as an etiologic factor in Noonan syndrome and cancer.
Despite the resemblance of RIT1 to other members of the Ras small guanosine …
Despite the resemblance of RIT1 to other members of the Ras small guanosine …
Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility
Y He, K Maier, J Leppert, I Hausser… - The American Journal of …, 2016 - cell.com
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by
the mechanically induced formation of skin blisters, is largely known, but a number of cases …
the mechanically induced formation of skin blisters, is largely known, but a number of cases …
Application of whole exome and targeted panel sequencing in the clinical molecular diagnosis of 319 Chinese families with inherited retinal dystrophy and …
L Wang, J Zhang, N Chen, L Wang, F Zhang, Z Ma, G Li… - Genes, 2018 - mdpi.com
Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous
diseases involving more than 280 genes and no less than 20 different clinical phenotypes …
diseases involving more than 280 genes and no less than 20 different clinical phenotypes …
The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance
Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular
condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying …
condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying …
mi RNA expression profile of retinal pigment epithelial cells under oxidative stress conditions
L Donato, P Bramanti, C Scimone, C Rinaldi… - FEBS Open …, 2018 - Wiley Online Library
Deep analysis of regulative mechanisms of transcription and translation in eukaryotes could
improve knowledge of many genetic pathologies such as retinitis pigmentosa (RP). New …
improve knowledge of many genetic pathologies such as retinitis pigmentosa (RP). New …
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
F Lecoquierre, O Quenez, S Fourneaux, S Coutant… - Human Genetics, 2023 - Springer
Exome sequencing (ES) has become the method of choice for diagnosing rare diseases,
while the availability of short-read genome sequencing (SR-GS) in a medical setting is …
while the availability of short-read genome sequencing (SR-GS) in a medical setting is …