research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
Search
for
Sort by
Research
270-300 / 1000+ resultsresearch Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research RAGE and Its Ligands in Melanoma
RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
research Knockout of the ING5 epigenetic regulator confirms roles in stem cell maintenance and tumor suppression in vivo
ING5 is crucial for stem cell maintenance and preventing certain cancers.
research Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation
The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
research Human Follicular Papilla Cells Carry Out Nonadipose Tissue Production of Leptin
Leptin may play a role in hair growth and hair follicle health.
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
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Induced pluripotent stem cells: Generation methods and a new perspective in COVID-19 research
iPSCs are promising for studying and treating COVID-19.
research Metabolic Regulation of Hematopoietic Stem Cells in the Hypoxic Niche
Low oxygen areas help maintain and protect blood stem cells by using a simple sugar breakdown process for energy and managing their activity levels.
research The JAK/STAT signaling pathway: from bench to clinic
The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
research Induction of the hair growth phase in postnatal mice by localized transient expression of Sonic hedgehog
Activating the Sonic hedgehog gene in mice can start the hair growth phase.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Impaired wound healing in transgenic mice overexpressing the activin antagonist follistatin in the epidermis
Overexpressing follistatin in mice delays wound healing and reduces scar size.
research Expression of Hypothalamic–Pituitary–Thyroid Axis RelatedGenes in the Human Skin
Thyroid-related genes are active in skin cells and may affect autoimmune conditions.
research Fibroblast growth factors: key players in regeneration and tissue repair
Fibroblast Growth Factors (FGFs) are important for tissue repair and regeneration, influencing cell behavior and other factors involved in healing, and are crucial in processes like wound healing, bone repair, and hair growth.
research The Pathobiology of Skin Aging
Skin aging is a complex process influenced by various factors, leading to wrinkles and sagging, and should be considered a disease due to its health impacts.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Bimatoprost in the treatment of eyelash hypotrichosis
Bimatoprost is effective for growing longer, thicker, and darker eyelashes.
research Oxidative DNA Damage Accelerates Skin Inflammation in Pristane-Induced Lupus Model
Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
research Involvement of the Edar Signaling in the Control of Hair Follicle Involution (Catagen)
Edar signaling is crucial for controlling hair growth and regression.
research Integrated Analysis of Methylome and Transcriptome Changes Reveals the Underlying Regulatory Signatures Driving Curly Wool Transformation in Chinese Zhongwei Goats
PDGFC gene may help select goats with desirable curly wool traits.
research PPAR-γ Agonists and Their Role in Primary Cicatricial Alopecia
PPAR-γ helps control skin oil glands and inflammation, and its disruption can cause hair loss diseases.
research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.