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.
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research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
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 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Turner's syndrome associated with psoriasis and alopecia areata
Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research Association Between Androgenic Alopecia and Schizophrenia: A Bidirectional Mendelian Randomization Study
Androgenetic alopecia may cause schizophrenia, but schizophrenia does not cause androgenetic alopecia.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Vogt-Koyanagi-Harada Syndrome from Dermatological Perspective: A Case Report
Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research A girl struggling with extremely unruly hair
The girl likely has Loose anagen hair syndrome, which may improve on its own or with minoxidil.
research Rare Case of Cutis Vertex Gyrata
A 21-year-old male has a rare scalp condition with excessive skin folds.
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 Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
Fragile hair in children is rarely linked to trichothiodystrophy (TTD).
research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Generalised Glucocorticoid Resistance
Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
research Short anagen syndrome in an African American woman
A 38-year-old African American woman has a rare condition that prevents her from growing long hair.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.