Search

everythinglearnresearchcommunity

for

Search:↓

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

New genetic mutations causing hair loss were found in a Chinese family.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

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

A new gene mutation linked to a skin condition was found in a Spanish family.

A specific gene mutation causes congenital hair loss.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

A unique gene mutation was found in a family with monilethrix.

A new gene mutation causes a rare type of hair loss.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

Researchers found a new mutation causing total hair loss from birth.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Two new gene mutations cause a rare hair disorder.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.