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.
Search
for
Sort by
Research
600-630 / 1000+ results 
research National scientific medical meeting 1996 abstracts
The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
research Genetics of infertility and “assisted fertilization” in the Bible: The case of Abraham and his family
Abraham's family infertility may have a genetic explanation.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Identification of Ovine KRTAP28-1 and Its Association with Wool Fibre Diameter
KRTAP28-1 gene can help breed sheep with finer wool.
research Peripheral blood gene expression in alopecia areata reveals molecular pathways distinguishing heritability, disease and severity
Blood tests can help understand the genetic differences in people with alopecia areata, including how severe it is and if it's inherited.
research Genomic Characterization of Quality Wool Traits in Spanish Merino Sheep
Key genes linked to wool quality in Spanish Merino sheep can improve fine wool production.
research Concurrent follicular dysplasia and interface dermatitis in Boxer dogs
Boxer dogs may have a genetic skin condition that worsens seasonally and can be treated with certain medications.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Genes and Immune Response in Alopecia Areata: Review of the Alopecia Areata Research Summit First Day Proceedings
Alopecia areata involves complex immune and genetic factors, with potential treatment targets identified, but more research is needed.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research The relation between androgenetic thin hair diagnosed by trichoscope and benign prostatic hyperplasia
Men with thinner hair from genetic hair loss may be more likely to have an enlarged prostate.
research Low Heterozygosity and Historical Bottleneck Effect Depicted From the Genome Assembly of the Indus River Dolphin (Platanista minor )
The Indus River dolphin has low genetic diversity due to a past bottleneck and human impact.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Abstracts
The document summarizes skin and immune system disease findings, especially related to AIDS, from the 1980s.
research Counting Hairs: Is It Androgenetic Alopecia or Chronic Telogen Effluvium?
Hair count is important to distinguish between genetic hair thinning (Androgenetic Alopecia) and hair thinning caused by disrupted hair growth (Chronic Telogen Effluvium).
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Maternal nutrition at conception modulates DNA methylation of human metastable epialleles
A mother's diet at conception can cause lasting genetic changes in her child.
research Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
research Primary Follicular Dystrophy With Scarring Dermatitis in C57BL/6 Mouse Substrains Resembles Central Centrifugal Cicatricial Alopecia in Humans
Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
research In Search of New Therapeutics—Molecular Aspects of the PCOS Pathophysiology: Genetics, Hormones, Metabolism and Beyond
New treatments are needed for PCOS that target its genetic, hormonal, and metabolic causes.
research Inherited epidermolysis bullosa: clinical and therapeutic aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research Male infertility and genitourinary birth defects: there is more than meets the eye
Male infertility and genitourinary birth defects are often linked to genetic issues.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research PSEUDOPELADE: AN INHERITED ALOPECIA
Pseudopelade is a rare inherited hair loss condition with a genetic cause.
research Molecular Regulatory Mechanisms in Chicken Feather Follicle Morphogenesis
The document concludes that various signaling pathways and genetic factors are crucial for chicken feather development, affecting poultry quality.