research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
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research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Deciphering gene regulatory programs in mouse embryonic skin through single-cell multiomics analysis
HT-scCAT-seq helps understand gene regulation in embryonic skin development.
research Characterization of X-Linked SNP genotypic variation in globally distributed human populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
research Foxn1 promotes keratinocyte differentiation by regulating the activity of protein kinase C
Foxn1 helps skin cells mature by controlling a specific protein's activity.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Dermal EZH2 orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell development and hair growth in mice.
research A Powerful Method for Pleiotropic Analysis under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
research p63 regulates Satb1 to control tissue-specific chromatin remodeling during development of the epidermis
p63 controls Satb1 to help skin develop properly.
research Spreading of Isolated Ptch Mutant Basal Cell Carcinoma Precursors Is Physiologically Suppressed and Counteracts Tumor Formation in Mice
External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Lipin 1 Gene Polymorphisms in Polycystic Ovary Syndrome
Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research 708 Polycomb-mediated repression and Sonic hedgehog signaling regulate Merkel cell specification
Sonic hedgehog signaling is needed for the development of touch-receptor cells in the skin, and the loss of Polycomb repressive complex 2 can lead to more of these cells.
research Colourless side of the nude mutation: Foxn1 and hair pigmentation
Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
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 Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research AP-2α/AP-2β transcription factors are key regulators of epidermal homeostasis
AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
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 Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Connexin mutations in human disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
research Polyamine Oxidase Expression Is Downregulated by 17β-Estradiol via Estrogen Receptor 2 in Human MCF-7 Breast Cancer Cells
17β-estradiol lowers polyamine oxidase levels in breast cancer cells through estrogen receptor 2.
research Dermal EZH2 simultaneously orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell growth and differentiation in mice.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.