EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state
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DOI: 10.1002/humu.23206
Abstract: Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from… read more here.
Keywords: waardenburg syndrome; cause waardenburg; mutations cause; type ... See more keywords
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
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DOI: 10.1002/jcp.31034
Abstract: The protection of telomere protein (POT1) is a telomere-binding protein and is an essential component of the six-membered shelterin complex, which is associated with the telomeres. POT1 directly binds to the 3' single-stranded telomeric overhang and prevents the… read more here.
Keywords: disease phenotypes; telomere length; mutations cause; pot1 mutations ... See more keywords
HDAC4 mutations cause diabetes and induce β‐cell FoxO1 nuclear exclusion
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DOI: 10.1002/mgg3.602
Abstract: Studying patients with rare Mendelian diabetes has uncovered molecular mechanisms regulating β‐cell pathophysiology. Previous studies have shown that Class IIa histone deacetylases (HDAC4, 5, 7, and 9) modulate mammalian pancreatic endocrine cell function and glucose… read more here.
Keywords: diabetes induce; cause diabetes; induce cell; hdac4 mutations ... See more keywords
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.01.008
Abstract: Respiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic acidosis to Leigh syndrome and other encephalomyopathies or cardiomyopathies. To date, disease-causing… read more here.
Keywords: cause mitochondrial; ndufb8 mutations; complex deficiency; mutations cause ... See more keywords
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2019.03.004
Abstract: Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono-allelic mutations of CSF1R are known to cause hereditary diffuse leukoencephalopathy with spheroids… read more here.
Keywords: csf1r mutations; mutations cause; allelic csf1r; skeletal dysplasia ... See more keywords
Sip-1 mutations cause disturbances in the activity of NMDA- and AMPA-, but not kainate receptors of neurons in the cerebral cortex
Sign Up to like & getrecommendations! Published in 2017 at "Neuroscience Letters"
DOI: 10.1016/j.neulet.2017.04.048
Abstract: Smad-interacting protein-1 (Sip1) [Zinc finger homeobox (Zfhx1b), Zeb2] is a transcription factor implicated in the genesis of Mowat-Wilson syndrome (MWS) in humans. MWS is a rare genetic autosomal dominant disease caused by a mutation in… read more here.
Keywords: sip1; ampa; nmda ampa; mutations cause ... See more keywords
NPC mutations cause SRNS
Sign Up to like & getrecommendations! Published in 2018 at "Nature Reviews Nephrology"
DOI: 10.1038/s41581-018-0064-9
Abstract: https://doi.org/10.1172/JCI98688 (2018) it was surprising that germline mutations in genes that are expressed in every cell of the human body give rise to a cell-specific phenotype Mutations in four genes that encode components of the… read more here.
Keywords: cause srns; nup107 nup85; srns npc; npc mutations ... See more keywords
Erratum: LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance (Brain (2016) 139 (782-794) DOI: 10.1093/brain/awv392)
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DOI: 10.1093/brain/awy194
Abstract: Cristina Dallabona, Truus E. M. Abbink, Rosalba Carrozzo, Alessandra Torraco, Andrea Legati, Carola G. M. van Berkel, Marcello Niceta, Tiziana Langella, Daniela Verrigni, Teresa Rizza, Daria Diodato, Fiorella Piemonte, Eleonora Lamantea, Mingyan Fang, Jianguo Zhang,… read more here.
Keywords: cause multifocal; lyrm7 mutations; multifocal cavitating; mutations cause ... See more keywords
Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy
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DOI: 10.1126/sciadv.1601959
Abstract: Converter HCM mutations cause only small changes in the biophysics of myosin, suggesting an alternative mechanism for hypercontractility. Hypertrophic cardiomyopathy (HCM) affects 1 in 500 individuals and is an important cause of arrhythmias and heart… read more here.
Keywords: myosin; hypertrophic cardiomyopathy; mutations cause; human cardiac ... See more keywords
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation
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DOI: 10.1126/sciadv.abk0114
Abstract: Budding uninhibited by benzimidazoles (BUB1) contributes to multiple mitotic processes. Here, we describe the first two patients with biallelic BUB1 germline mutations, who both display microcephaly, intellectual disability, and several patient-specific features. The identified mutations… read more here.
Keywords: chromosome segregation; biallelic bub1; mutations cause; bub1 mutations ... See more keywords
Cx26 heterozygous mutations cause hyperacusis-like hearing oversensitivity and increase susceptibility to noise
Sign Up to like & getrecommendations! Published in 2023 at "Science Advances"
DOI: 10.1126/sciadv.adf4144
Abstract: Gap junction gene GJB2 (Cx26) mutations cause >50% of nonsyndromic hearing loss. Its recessive hetero-mutation carriers, who have no deafness, occupy ~10 to 20% of the general population. Here, we report an unexpected finding that… read more here.
Keywords: hearing oversensitivity; noise; mutations cause; increase ... See more keywords