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.
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390-420 / 1000+ results 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 Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
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 Dilation of Multiple Eccrine Ducts as a Highly Specific Marker for Cicatricial Alopecia
Widened sweat ducts are a very specific sign of scarring hair loss.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
research Clinical Manifestations of Dermatomyositis
Most patients with dermatomyositis had skin rash, itching, and muscle weakness, treated mainly with prednisolone and hydroxychloroquine.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Maternal androgen excess induces cardiac hypertrophy and left ventricular dysfunction in female mice offspring
High levels of male hormones in pregnant mice cause heart enlargement and poor heart function in their female babies.
research Dermal lymphatic dilation in a mouse model of alopecia areata
Mice with alopecia areata had wider lymphatic vessels in their skin.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Bilaterally Symmetrical Alopecia With Reticulated Hyperpigmentation
A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Chronic urticaria versus dermatomyositis in a case of T- cell large granular lymphocytic leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research Cutaneous Neoplasms in Myotonic Dystrophy Type 1
People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research PERICARDIAL EFFUSIONS ASSOCIATED WITH MINOXIDIL
research Profound bradycardia after addition of diltiazem to a beta blocker.
Adding diltiazem to a beta blocker can cause dangerously slow heart rates.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Abstract 13315: Recurrent Cardiac Tamponade Due to Minoxidil Associated Drug Induced Lupus Erythematosus
Minoxidil can cause a rare but serious condition that leads to fluid buildup around the heart and drug-induced lupus.
research Colour Dilution Alopecia (CDA) in Ten yorkshire Terriers
Yorkshire Terriers with Colour Dilution Alopecia have reduced melanin and hair structure issues.