research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
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research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Pannexin 3 regulates skin development via Epiprofin
Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Mitogen‐regulated protein/proliferin mRNA induction following single applications of tumor promoters to murine skin
mrp/plf-mRNA can indicate tumor-promoting effects in skin.
research Pvalb8, a Type of Oncomodulin, Regulates Neuromast Development and Auditory Function in Zebrafish
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
research Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
research Polymorphic CAG repeat numbers in the androgen receptor gene of female pattern hair loss patients
Longer CAG repeats in gene linked to more severe hair loss in females.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Genetic Prediction of Male Pattern Baldness
Genetic factors can predict male pattern baldness risk.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
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 Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Skin epidermal keratinocyte p53 induces food uptake upon UV exposure
UVB exposure increases appetite by activating p53 in skin cells.
research Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree
A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
research Alopecia Areata is associated with MICA and an extended HLA haplotype
Certain genes are linked to the risk of developing Alopecia Areata.
research Metabolic features of the reproductive phenotypes of polycystic ovary syndrome
Women with the NIH type of PCOS have more obesity and higher risk of diabetes and heart disease than those with other types of PCOS.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
research Abstract 5561: 20(S)-Protopanaxadiol-aglycone downregulates full-length and ligand-independent splice variants of androgen receptor
20(S)-Protopanaxadiol-aglycone may help prevent and treat prostate cancer by reducing androgen receptor activity.
research 570 Targeting phosphodiesterase 8A (PDE8A) to boost adipogenesis and hair regeneration
Inhibiting PDE8A may help treat hair loss by boosting fat cell growth and hair regeneration.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research The Mammalian Hairless Protein as a DNA Binding Phosphoprotein
The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
research Faculty Opinions recommendation of Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis.
Certain gene variations are significantly linked to hair loss, especially in white people.
research Generalized pustular toxic erythema: pathogenetic relationship between pustule and epidermal appendage (hair follicle or sweat duct)
Pustules in toxic erythema are linked to hair follicles or sweat ducts.