research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
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research In-silico cardiac aging regulatory model including microRNA post-transcriptional regulation
Researchers created a model to understand heart aging, highlighting the role of microRNAs and identifying key genes and pathways involved.
research Maternal androgen excess inhibits fetal cardiomyocytes proliferation through RB-mediated cell cycle arrest and induces cardiac hypertrophy in adulthood
Excess maternal androgens can cause heart problems in offspring.
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 Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies
Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Profound bradycardia after addition of diltiazem to a beta blocker.
Adding diltiazem to a beta blocker can cause dangerously slow heart rates.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research W POSZUKIWANIU UTRACONEJ FIZJOLOGII – WKŁAD UJ W BADANIA NAD STAŁĄ STYMULACJĄ SERCA
Recent advancements in cardiac pacing improve heart function and reduce complications.
research ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Severe cardiac conduction abnormalities associated with atypical toxic shock syndrome
A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
research Evaluation of Anthropometric Measurements, Arterial Stiffness and ECG Parameters in Alopecia Areata Patients
Alopecia areata may be linked to changes in body fat but not to heart or artery issues.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
research Reticular Erythematous Mucinosis Syndrome
Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
research Ion Sequential Therapy Aligned With Pathological Changes Enhances Cardiac Function After Myocardial Infarction
Ion sequential therapy improves heart function after a heart attack.
research Cutaneous latanoprost in the treatment of alopecia areata
Applying latanoprost on skin can stimulate hair growth with minimal side effects.