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1982 1
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20,101 results

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Page 1
Mosaic EPAS1 Gain-of-Function Spectrum.
Alkaissi H, Pacak K, Zhuang Z. Alkaissi H, et al. 2026 Mar 26. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2026 Mar 26. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 41911375 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The phenotypic spectrum due to mosaic EPAS1 gain-of-function pathogenic variants has traditionally been divided into Pacak-Zhuang syndrome (PZS; classically defined as polycythemia with paraganglioma or somatostatinoma associated wit …
CLINICAL CHARACTERISTICS: The phenotypic spectrum due to mosaic EPAS1 gain-of-function pathogenic variants has traditio …
PTDSS1-Related Lenz-Majewski Hyperostotic Dysplasia.
Buasri K, Slavotinek A, Wattanasirichaigoon D. Buasri K, et al. 2026 Mar 12. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2026 Mar 12. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 41818602 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of PTDSS1-related LMHD is established in a proband with characteristic clinical and imaging findings and a heterozygous pathogenic gain-of-function variant in PTDSS1 identified by molecular genetic testing. MANAGEMENT: Treatme …
DIAGNOSIS/TESTING: The diagnosis of PTDSS1-related LMHD is established in a proband with characteristic clinical and imaging findings and a …
Mutations of MRGPRX2, drug sensitivity, and genetic markers related to disease.
Ratnayake SH, Senarath K, Gangani D, Dasanayake D, de Silva R, Handunnetti S. Ratnayake SH, et al. J Allergy Clin Immunol Glob. 2025 Mar 31;4(3):100467. doi: 10.1016/j.jacig.2025.100467. eCollection 2025 Aug. J Allergy Clin Immunol Glob. 2025. PMID: 41631278 Free PMC article. Review.
In 2021, it was reported that naturally occurring missense mutations in the MRGPRX2 gene could lead to a loss-of-function phenotype affecting MC activation by a wide range of ligands. Mutations resulting in gain of function have also been reported. The likeli …
In 2021, it was reported that naturally occurring missense mutations in the MRGPRX2 gene could lead to a loss-of-function phenotype affectin …
Early transcriptomic perturbations highlight the spinal cord as a key pathogenic region in spinocerebellar ataxia type 3.
Emerson J, Nelthrope BS, Walker EA, Mao G, Shorrock HK, McLoughlin HS. Emerson J, et al. Front Cell Neurosci. 2026 Jan 14;19:1735225. doi: 10.3389/fncel.2025.1735225. eCollection 2025. Front Cell Neurosci. 2026. PMID: 41613623 Free PMC article.
Transcriptomic profiling of Atxn3 knockout mouse spinal cord revealed only subtle transcriptional changes with little overlap to those in SCA3 knock-in mice, indicating that spinal cord pathology arising from gene expression changes are due to mutant ATXN3 toxic gain-of …
Transcriptomic profiling of Atxn3 knockout mouse spinal cord revealed only subtle transcriptional changes with little overlap to those in SC …
Cantú Syndrome.
Grange DK, Nichols CG, Singh GK, Guilliams K, Aggarwal M. Grange DK, et al. 2014 Oct 2 [updated 2026 Jan 29]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2014 Oct 2 [updated 2026 Jan 29]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 25275207 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of Cantu syndrome can be established in a proband with characteristic clinical and imaging findings and/or a heterozygous gain-of-function pathogenic variant in ABCC9 or KCNJ8 identified by molecular genetic testing. ...
DIAGNOSIS/TESTING: The diagnosis of Cantu syndrome can be established in a proband with characteristic clinical and imaging findings and/or …
Potential benefits of JAK inhibitor therapy in Blau syndrome: a case report.
Wang Y, Yu XJ, Zhang Z. Wang Y, et al. Front Immunol. 2026 Jan 12;16:1665949. doi: 10.3389/fimmu.2025.1665949. eCollection 2025. Front Immunol. 2026. PMID: 41601685 Free PMC article.
Blau syndrome is a rare autoinflammatory disorder caused by gain-of-function mutations in the NOD2 (nucleotide binding oligomerization domain containing 2 receptor) gene. ...
Blau syndrome is a rare autoinflammatory disorder caused by gain-of-function mutations in the NOD2 (nucleotide binding …
A novel gain-of-function mutation SCN5A-N470K associated with African American familial atrial fibrillation.
Cao X, Darbar FA, Wu X, Zhang L, Darbar D, Hong L. Cao X, et al. Am J Cardiovasc Dis. 2025 Dec 15;15(6):357-365. doi: 10.62347/YGWN5773. eCollection 2025. Am J Cardiovasc Dis. 2025. PMID: 41567847 Free PMC article.
CONCLUSION: The SCN5A-N470K mutation represents a gain-of-function alteration characterized by increased peak sodium current, and enhanced window current defined by the overlap of voltage-dependent inactivation and activation curves. ...
CONCLUSION: The SCN5A-N470K mutation represents a gain-of-function alteration characterized by increased peak sodium cu …
Interactome screening implicates BAG6 as a suppressor of UBQLN2 misfolding in ALS/FTD.
Kim SH, Boos CE, Scalf M, Wilkemeyer AK, Smith LM, Tibbetts RS. Kim SH, et al. Front Mol Neurosci. 2026 Jan 5;18:1720347. doi: 10.3389/fnmol.2025.1720347. eCollection 2025. Front Mol Neurosci. 2026. PMID: 41561437 Free PMC article.
ALS/FTD-linked mutations in UBQLN2 disrupt its conformation, increasing its tendency to form cytoplasmic aggregates that may disrupt cellular regulation through loss-of-function (LOF) and gain-of-function (GOF) effects. Here, we performed quantitative mass sp …
ALS/FTD-linked mutations in UBQLN2 disrupt its conformation, increasing its tendency to form cytoplasmic aggregates that may disrupt cellula …
Germline and somatic mutations in histologically atypical congenital hyperinsulinism.
Larsen AR, Globa E, Andersen DC, Limbert C, Mattsson ÅL, Nielsen AL, Mortensen MB, Hejbøl EK, Brusgaard K, Detlefsen S, Christesen HT. Larsen AR, et al. Front Endocrinol (Lausanne). 2026 Jan 5;16:1692539. doi: 10.3389/fendo.2025.1692539. eCollection 2025. Front Endocrinol (Lausanne). 2026. PMID: 41561050 Free PMC article.
Patient 4 showed a CACNA1D frameshift mutation suggesting Cav1.3-channel gain-of-function properties. No relevant genetic changes were found in Patient 5. In all five atypical CHI specimens, pancreatic histology showed slight changes with areas having pronoun …
Patient 4 showed a CACNA1D frameshift mutation suggesting Cav1.3-channel gain-of-function properties. No relevant genet …
Secretory Diarrhea Caused by Activating GUCY2C Mutation in a Patient With Atypical Kawasaki Disease: A Rare Case Report.
Mujahed R, Banat MA, Jawabreh M, Belbaisi QM, Atawneh B, Ghaith HMA. Mujahed R, et al. Sage Open Pediatr. 2025 Dec 24;12:30502225251403777. doi: 10.1177/30502225251403777. eCollection 2025 Jan-Dec. Sage Open Pediatr. 2025. PMID: 41467067 Free PMC article.
This case describes a rare presentation of early onset diarrhea and systemic inflammation associated with a gain-of-function mutation. The GUCY2C mutations are known to dysregulate intestinal fluid homeostasis, through excessive CFTR-mediated chloride secreti …
This case describes a rare presentation of early onset diarrhea and systemic inflammation associated with a gain-of-functio …
20,101 results
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