research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
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research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
research De novo mutations in monilethrix
In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
research Integrated multiple machine learning and Mendelian randomization reveal LTF gene as a prognostic biomarker for nonspecific orbital inflammation
The LTF gene may help predict and manage nonspecific orbital inflammation.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
research A kindred with mutant IKAROS and autoimmunity
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.
research TCF/Lef1-Mediated Control of Lipid Metabolism Regulates Skin Barrier Function
This study found that impaired TCF/Lef1 signaling in mice leads to significant skin barrier defects due to altered lipid metabolism and epidermal differentiation.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma
This study observed that aberrant DNA methylation in murine and human cutaneous squamous cell carcinoma likely contributes to the silencing of tumor suppressor genes, notably affecting the FILIP1L gene.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
research Decision letter: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.