research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
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research Phenotypic Plasticity: Driver of Cancer Initiation, Progression, and Therapy Resistance
This study suggests that phenotypic plasticity, including processes like dedifferentiation and transdifferentiation, plays a crucial role in cancer initiation, progression, and therapy resistance, broadening our understanding of cancer dynamics and potential treatment strategies.
research The role of functional variants in the aetiology of polycystic ovary syndrome
This study identified the novel genetic variant rs143321413 within the EEF2K gene, which may play a role in the development of polycystic ovary syndrome.
research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women
In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.
research JAK-centric explainable few-shot gene-expression diagnosis framework for alopecia via MultiPLIER priors and relation-style set-to-set comparison
This study identified a four-gene loop as a non-invasive biomarker that selectively activates in alopecia areata, providing a precise target for JAK inhibitor treatments.
research Developing Humanized Animal Models with Transplantable Human iPSC-Derived Cells
This paper reviews current developments in humanized animal models for disease modeling and drug screening, highlighting advances in gene editing and stem cell technologies as key to creating more human-like models for research purposes.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.
research Modeling animal genomics in mice: An authentic approach for the functional interrogation of evolutionarily and agriculturally critical variants
This commentary highlights the potential of using transgenic and genome-edited mouse models to validate findings from livestock genomic and multi-omic analyses, aiding in the understanding of economically significant animal traits.
research DEEP REINFORCEMENT LEARNING FOR SCALABLE CONTROL OF BOOLEAN MODELS IN THE CONTEXT OF CELLULAR REPROGRAMMING
In this study, researchers developed a novel computational framework using deep reinforcement learning to identify strategies for cellular reprogramming in gene regulatory networks, showing its effectiveness in a model of immune response against infection.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
This study identified specific genetic variations associated with polycystic ovarian syndrome in Karnataka, which may help improve diagnosis and treatment.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana
This study found that regio-specific hydroxylation of cyclosporine A in Sebekia benihana is mediated by the cytochrome P450 hydroxylase CYP-sb21, suggesting potential biotechnological applications for hair growth promotion without immunosuppressive effects.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
research Prediction of male-pattern baldness from genotypes
This study found that a genetic model using SNPs can predict early-onset male-pattern baldness with moderate accuracy, which may assist in decisions about interventions.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
research Management of neonates and children with male pseudohermaphroditism
The authors concluded that most male pseudohermaphrodites should be raised as females, recommending early gender assignment and appropriate alterations to better support coping and development.
research 458 UVB-induced facultative pigmentation is associated with distinct DNA methylation changes
This study found that UVB exposure led to visible tanning and distinct DNA methylation changes in pigmentation genes in tan-capable skin but not in non-tan skin, highlighting GNAS as a potentially UVB-responsive gene.
research Persistent Hypoglycemia and Macrosomia in a Newborn
This case report describes an infant with congenital hyperinsulinism linked to a genetic mutation in the ABCC8 gene, illustrating challenges in managing persistent hypoglycemia despite medical interventions, leading to a near-total pancreatectomy.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
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.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
This case report describes an adult male from India with Werner's syndrome due to a novel homozygous mutation in the WRN gene, characterized by several premature aging symptoms.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
This study suggests that prenatal genetic diagnosis of MELAS syndrome using amniotic cells may not reliably predict fetal outcomes due to phenotypic diversity observed in siblings with similar levels of mutant mtDNA.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.
research Genotype score associated with the risk of androgenetic alopecia.
This study reports no new clinical results as it focuses on risk score analysis using top SNPs identified in genome-wide significant loci.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
research Disease causing homozygous variants in the human hairless gene
In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
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.