research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
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research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Exploring the relationship between anastasis and mitochondrial ROS-mediated ferroptosis in metastatic chemoresistant cancers: a call for investigation
Targeting specific molecular pathways may improve treatments for chemoresistant cancers.
research Efficient Gene Editing for Heart Disease via ELIP-Based CRISPR Delivery System
ELIP-based CRISPR delivery improves heart disease gene editing but needs more testing.
research Evaluation of noninvasive biospecimens for transcriptome studies
Hair follicles and urine cell pellets are promising for transcriptome studies.
research Differentiation stage-specific use of cap-independent and cap-dependent translation initiation in hematopoiesis
Low IRES/Cap translation is linked to higher stem cell potential.
research Insight into the pathogensis of polycystic ovarian syndrome
The document's conclusion cannot be provided because the document is not accessible or understandable.
research Towards Defining the Pathogenesis of the Hairless Phenotype
The hairless gene mutation causes baldness by disrupting hair follicle structure.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Diagnosis Of Satoyoshi Syndrome Using A Neuroblastoma Cell (SH-SY5Y) Lysate As Substrate For Western Blot
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
research Hair trace elementary profiles in aging rodents and primates: links to altered cell homeodynamics and disease
research Rapunzel syndrome: a rare form of trichobezoar in the stomach with some extension into the small intestine
An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
research Non-invasive human skin transcriptome analysis using mRNA in skin surface lipids
The conclusion is that analyzing RNA from skin oils is a promising way to understand skin diseases.
research Fatal Rapunzel Syndrome
A child died from eating hair, causing severe stomach blockages and infection.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11
research Faculty Opinions recommendation of Association of topical minoxidil with autosomal recessive woolly hair/hypotrichosis caused by LIPH pathogenic variants.
research The Enticing Path of miR Therapeutics: Difficult but Not without Prospects
Developing microRNA-based treatments is hard but has potential.
research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research Synthesis and biological activity of raltitrexed-carrier conjugates.
Raltitrexed conjugates are less potent than the free drug but more effective at high concentrations.
research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
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 Proteolysis‐targeting chimeras in cancer therapy: Targeted protein degradation for next‐generation treatment
PROTACs offer a new, precise way to treat cancer by breaking down harmful proteins.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Modulating Aging and Aging-related Symptoms Using Endogenous Small Molecules
A molecule called α-ketobutyrate was found to extend lifespan and improve aging-related symptoms in worms and mice by activating certain cellular pathways and may help develop anti-aging treatments for humans.
research Ruxolitinib found to cause eyelash growth: a case report
Ruxolitinib treatment may cause eyelash growth.