research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
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300-330 / 1000+ results research Cardiovascular risk markers in premature canities
Early hair greying may increase the risk of heart disease.
research Microscopic Study concerning Hair Form of One Family in the Mixed Blood between European and Ponapean
Hair form in mixed-blood families varies due to hereditary twist-knots and pigment formation.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research SLE classification criteria item relationships: implications on SLE as a disease entity
SLE is likely one disease with various symptoms, not multiple distinct diseases.
research scMC learns biological variation through the alignment of multiple single-cell genomics datasets
scMC effectively separates biological signals from technical noise in single-cell genomics data.
research Трансплантация генетически модифицированных мононуклеарных клеток пуповиной крови человека и прямая генная терапия при регенерации кожных ран у крыс
Genetically modified cells improved skin wound healing in rats.
research Familial Androgenetic Alopecia in Siblings with Normal Endocrinological Status
Two young siblings experienced hair loss without hormone issues or other skin problems.
research 559 Induction of tissue-specific premature stem cell aging promotes senescence-like phenotypes in remote multiple organs
Aging in one type of stem cell can cause aging-like changes in various organs.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Maternal iron status in early pregnancy and DNA methylation in offspring: an epigenome-wide meta-analysis
A mother's iron levels early in pregnancy can influence the DNA makeup of her child, potentially affecting the child's health.
research Human gene correlation analysis (HGCA): A tool for the identification of transcriptionally co-expressed genes
The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
research Gene and tonic: Sonic hedgehog disruption and fetal alcohol syndrome
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Application of genetically modified umbilical cord blood cells and direct gene therapy for treatment of skin wounds in rats
Genetically modified umbilical cord blood cells improved skin wound healing in rats.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism
The method effectively extracts high-quality DNA from marmoset hair, avoiding blood chimerism.
research EXPLORING THE ROLE OF UMBILICAL CORD AND CORD BLOOD IN REGENERATIVE MEDICINE
Umbilical cord and cord blood stem cells are promising for treating chronic diseases due to their versatility and ethical acceptability.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Thrombophilia and Polycythemia in a Woman With Budd-Chiari Syndrome
A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
research P-055 MONOZYGOTIC TRANSGENDER MALE TWINS: A CASE REPORT HIGHLIGHTING GENETIC CONCORDANCE IN GENDER DYSPHORIA
Genetics may play a significant role in gender dysphoria.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Siberian cats help in solving part of the mystery surrounding golden cats
The CORIN gene variant causes the golden color in Siberian cats.
research CD98hc (SLC3A2) regulation of skin homeostasis wanes with age
CD98hc's role in skin health decreases with age.
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
research The relationship between intimacy and subjective health in couples who undergo infertility treatment
Greater intimacy leads to better self-reported health in couples having infertility treatment.
research Puberty induction with recombinant gonadotropin: What impact on future fertility?
Recombinant gonadotropins improve future fertility in CHH patients.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Focal Scalp Hair Heterochromia in an Infant
An infant had two different natural hair colors on the scalp with no health issues.
research Isolation and Characterization of a Fetal-Maternal Microchimeric Stem Cell Population in Maternal Hair Follicles Long after Parturition
Fetal-maternal stem cells in a mother's hair can help with tissue repair and regeneration long after childbirth.