Heterozygous mutation in the SdhD subunit confers resistance to thifluzamide in the multinucleate pathogen Sclerotium rolfsii.
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DOI: 10.1002/ps.70370
Abstract: BACKGROUND Peanut stem rot, a destructive soil-borne disease caused by the multinucleate fungus Sclerotium rolfsii, is primarily controlled using the succinate dehydrogenase inhibitor (SDHI) fungicide thifluzamide. However, the sensitivity and resistance mechanisms of S. rolfsii… read more here.
Keywords: sdhd subunit; heterozygous mutation; confers resistance; mutation sdhd ... See more keywords
A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
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DOI: 10.1038/s41439-019-0045-y
Abstract: Bardet–Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a… read more here.
Keywords: mutation ttc8; novel compound; compound heterozygous; heterozygous mutation ... See more keywords
Identification of a heterozygous variant of ZP2 as a novel cause of empty follicle syndrome in humans and mice.
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DOI: 10.1093/humrep/deac026
Abstract: STUDY QUESTION Is a recurrent heterozygous mutation in ZP2, c.1925G>A (p.R642Q), associated with the Empty follicle syndrome (EFS)? SUMMARY ANSWER ZP2, c.1925G>A (p.R642Q), led to female infertility related to EFS in humans and mice and… read more here.
Keywords: mutation zp2; zp2r642q; mice; zp2 ... See more keywords
A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report
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DOI: 10.1097/md.0000000000032970
Abstract: Rationale: Congenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis… read more here.
Keywords: congenital nephrotic; nphs1 gene; nephrotic syndrome; heterozygous mutation ... See more keywords
A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report
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DOI: 10.1097/md.0000000000033744
Abstract: Background: TBL1XR1, also known as IRA1 or TBLR1, encodes a protein that is localized in the nucleus and is expressed in most tissues. TBL1XR1 binds to histones H2B and H4 in vitro and functions in… read more here.
Keywords: tbl1xr1 gene; tbl1xr1; child; case ... See more keywords
A Chinese CADASIL family with a rare heterozygous mutation in exon 2 of NOTCH3: A case report
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DOI: 10.1097/md.0000000000040107
Abstract: Rationale: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease caused by the neurogenic locus notch homolog protein 3 (NOTCH3) gene mutation. In recent years, most of the newly… read more here.
Keywords: rare heterozygous; heterozygous mutation; mutation exon; mutation ... See more keywords
A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Diabetes"
DOI: 10.1111/1753-0407.13183
Abstract: Highlights A novel heterozygous mutation in the SLC5A2 gene in a 2-year-old girl with severe asymptomatic glycosuria, mild failure to thrive, and subclinical hypoglycemia: Continuous glucose monitoring identified 14% hypoglycemic excursions (< 70 mg/dl), reduced… read more here.
Keywords: novel heterozygous; glycosuria mild; slc5a2 gene; mild failure ... See more keywords
Novel Compound Heterozygous Mutation in the KCNJ1 Gene Causes Bartter Syndrome
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DOI: 10.1111/nep.70136
Abstract: Bartter syndrome type II is an autosomal recessive salt‐losing tubulopathy caused by variants in the KCNJ1 gene, with a typical clinical phenotype of hypokalemia. In this study, we identified a 3‐year‐old child exhibiting hypokalemia and… read more here.
Keywords: bartter syndrome; heterozygous mutation; novel compound; compound heterozygous ... See more keywords
A compound heterozygous mutation in ZP1 and two novel heterozygous cis mutations in ZP3 causes infertility in women presenting with empty follicle syndrome
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Ovarian Research"
DOI: 10.1186/s13048-025-01674-7
Abstract: Infertility, as a major human reproductive health problem, affects approximately 17.5% of the global population. The emergence of assisted reproductive technology, particularly in vitro fertilization (IVF), has resolved the reproductive challenges of most infertile couples.… read more here.
Keywords: empty follicle; heterozygous mutation; compound heterozygous; mutation ... See more keywords
A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy
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DOI: 10.2147/dmso.s207293
Abstract: Purpose This study aims to report the clinical features of an infant with CGL in a Chinese Zhuang ethnic family, whose family members were discovered to carry new pathogenic mutations in the BSCL2. Patients and… read more here.
Keywords: mutation; compound heterozygous; heterozygous mutation; family ... See more keywords
A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype.
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DOI: 10.3233/jnd-221532
Abstract: BACKGROUND The number of mutations in nuclear encoded genes causing mitochondrial disease is ever increasing. Identification of these mutations is particularly important in the diagnosis of neuromuscular disorders as their presentation may mimic other acquired… read more here.
Keywords: mitochondrial fission; mff; mitochondrial phenotype; mild mitochondrial ... See more keywords