research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
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630-660 / 1000+ results research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
![Influence of FHIT on Benzo[a]pyrene-Induced Tumors and Alopecia in Mice: Chemoprevention by Budesonide and N-Acetylcysteine](/images/research/f8f56777-f891-4879-8c45-c87d6aa82563/small/35499.jpg)
research Influence of FHIT on benzo[ a ]pyrene-induced tumors and alopecia in mice: Chemoprevention by budesonide and N -acetylcysteine
Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.
research Single nucleotide polymorphisms associated with elevated alanine aminotransferase in patients receiving asunaprevir plus daclatasvir combination therapy for chronic hepatitis C
Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research Decision letter: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
research Hairless is a nuclear receptor corepressor essential for skin function
Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research 321 Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
Hairless gene not strongly linked to baldness.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse
research Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population
A specific genetic marker is linked to male pattern baldness in Han Chinese men.
research Association of Single Nucleotide Polymorphisms in the CYP19A1 Gene with Female Pattern Hair Loss in a Chinese Population
Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
research Ox40-Cre–mediated deletion of BRD4 reveals an unexpected phenotype of hair follicle stem cells in alopecia
Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation
A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.