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Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

Poly(ADP-ribose) synthesis is linked to skin cell differentiation.

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.

Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.

A new DSG4 gene mutation causes hair defects in a young girl.

The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

Genetic factors affecting skin health and body weight may increase the risk of dermatophytosis.

A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.

Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.

The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.

Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.

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.

Longer CAG repeats in gene linked to more severe hair loss in females.

Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.

Researchers found two genes that may explain why some Casertana pigs don't have hair.

The research found specific genes that may cause longer hair in Tianzhu White Yak.

PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.