research Phenotypic variability associated withWNT10Anonsense mutations
This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.
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30 / 1000+ results research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
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.
research Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs
This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.
research Auditory Threshold Variability in the SAMP8 Mouse Model of Age-Related Hearing Loss: Functional Loss and Phenotypic Change Precede Outer Hair Cell Loss
This study found that in SAMP8 mice, phenotypic changes in outer hair cells or the stria vascularis, possibly due to oxidative deficiencies, may predict variability in age-related hearing loss before outer hair cell loss occurs.
research SAT-148 Late Diagnosis of Klinefelter Syndrome: Overcoming Phenotypic Variability and Diagnostic Oversights
This report highlights that Klinefelter syndrome is often underdiagnosed due to phenotypic variability and emphasizes the importance of thorough physical examinations to improve diagnostic timing.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
research Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth
This review discusses the genetic basis and familial patterns of polycystic ovary syndrome, noting a strong familial component but inconclusive genetic patterns; it reports no new empirical findings.
research The composition of cell‐based therapies obtained from point‐of‐care devices/systems which mechanically dissociate lipoaspirate: a scoping review of the literature
This scoping review explores devices that mechanically process lipoaspirate for cell-based therapies but finds insufficient evidence to determine their clinical effectiveness due to lack of standardization and data variability.
research Electrophoretic variability in human hair: Comparative sodium dodecyl sulfate‐polyacrylamide gel electrophoresis of body and head hair proteins
This study found that keratin phenotypes were consistent across different types of hair from the same individual, allowing for successful keratin typing following ABH blood group determination.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.
research Phenotypic variation in biotinidase deficiency
In this study, biotinidase deficiency in children usually presented with neurological or skin symptoms, while metabolic ketoacidosis and organic aciduria appeared later.
research Electrophoretic variability in human head hair: Polyacrylamide gel electrophoresis of hair proteins in the presence of sodium dodecyl sulfate and urea
This study found that electrophoretic keratin typing of head hair can identify specific polypeptide patterns, suggesting potential applications in genetic and forensic investigations.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
The research observed that among Ecuadorian Andean women with polycystic ovary syndrome, classical phenotypes A and B were more prevalent and associated with higher risks of insulin resistance and metabolic disorders compared to phenotypes C and D.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
research The PCOS Phenotypes in Unselected Populations (P-PUP) study: participant clinical features and data harmonization on analysis of individual participant data
The authors concluded that establishing and standardizing methods for data collection are crucial to improving PCOS diagnosis and research due to challenges observed in data harmonization across diverse international cohorts.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.
research Inheritance of Some Electrophoretic Phenotypes of Human Hair
This study used one-dimensional SDS electrophoresis to examine low sulfur proteins in hair samples from multiple generations within five families, but does not report new results.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review
This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.
research Adaptive 3D Self‐Assembly of Colorectal Cancer Cells With Unchanged Tumor Phenotype and Drug Sensitivity
This study observed that colorectal cancer tumoroids adapted to an environment without a matrix by developing disordered self-assembly, but their tumor-specific phenotypes and drug sensitivity remained unchanged.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Inherited Hair Disorders
This discussion highlights the genetic and phenotypic variability in inherited hair disorders and emphasizes the importance of accurate diagnosis due to potential systemic manifestations; no new clinical results are reported.
research The pressing need for standardization in epidemiologic studies of PCOS across the globe
This article discusses the need for a globally standardized protocol for epidemiologic studies of polycystic ovary syndrome to improve study comparability and public health policy.