Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.

The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.

This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.

This case report describes a 4-year-old boy with autism and a rare condition causing precocious puberty, where treatment for hyperandrogenism unexpectedly intensified his aggressive behavior.

This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.

This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.

Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.

This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.

This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.

In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.

This article analyzes the potential for insights from monogenic disorders to inform the understanding and treatment of common polygenic diseases, though complete predictability based on genotype remains unrealistic.

This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

This study suggests that although the G972R variant of the IRS1 gene might increase AA excess risk in heterozygous carriers with CYP21 mutations, both variations play a limited role in PCOS development.

This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.

This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.

This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.