Mareike Selig
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View article: Pathogenic <i>Neurofibromatosis type 1</i> gene variants in tumors of non‐ <scp>NF1</scp> patients and role of <scp>R1276</scp>
Pathogenic <i>Neurofibromatosis type 1</i> gene variants in tumors of non‐ <span>NF1</span> patients and role of <span>R1276</span> Open
Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome associated with pathogenic variants affecting the GTPase‐activating protein neurofibromin. Genetic variants affect neurofibromin through targeted protein degradation, failed…
View article: Further Evidence That Chondrocalcinosis 1 ( <scp>CCAL1</scp> ) is a Confirmed Mendelian Phenotype With a Known Molecular Basis
Further Evidence That Chondrocalcinosis 1 ( <span>CCAL1</span> ) is a Confirmed Mendelian Phenotype With a Known Molecular Basis Open
Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and …
View article: Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis Open
Canavan disease (CD) is a rare autosomal recessive leukodystrophy caused by biallelic pathogenic variants in the ASPA gene. CD is characterized by developmental delay, macrocephaly, and abnormal muscle tone. The biochemical diagnosis is co…
View article: Generation of two human induced pluripotent stem cell lines from a patient with Neurofibromatosis type 1 (NF1) and pathogenic NF1 gene variant c.1466 A>G BCRTi011-A as well as a first-degree healthy relative (BCRTi010-A)
Generation of two human induced pluripotent stem cell lines from a patient with Neurofibromatosis type 1 (NF1) and pathogenic NF1 gene variant c.1466 A>G BCRTi011-A as well as a first-degree healthy relative (BCRTi010-A) Open
We describe the generation of two human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) using a non-integrative episomal reprogramming strategy. The first cell line was derived from a NF1 …
View article: Putative founder effect of Arg338* <scp> <i>AP4M1</i> </scp> ( <scp>SPG50</scp> ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
Putative founder effect of Arg338* <span> <i>AP4M1</i> </span> ( <span>SPG50</span> ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families Open
Bi‐allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the “AP4 deficiency syndrome.” Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability,…
View article: Rapid detection by <i>hydrops panel</i> of Noonan syndrome with <i>PTPN11</i> mutation (p.Thr73Ile) and persistent thrombocytopenia
Rapid detection by <i>hydrops panel</i> of Noonan syndrome with <i>PTPN11</i> mutation (p.Thr73Ile) and persistent thrombocytopenia Open
Background Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early dia…