Results 21 to 30 of about 19,449 (186)
Human RecQ Helicases in DNA Double-Strand Break Repair
RecQ DNA helicases are a conserved protein family found in bacteria, fungus, plants, and animals. These helicases play important roles in multiple cellular functions, including DNA replication, transcription, DNA repair, and telomere maintenance.
Huiming Lu, Anthony J. Davis
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Herlyn-Werner-Wunderlich syndrome: A rare cause of abdominal pain and dyspareunia
Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital disease characterized by Mullerian duct anomalies. The characteristic triad of this syndrome includes didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis (hence, also known ...
Ninad Salastekar, MBBS, MPH +3 more
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Herlyn-Werner-Wunderlich syndrome, is a rare urogenital congenital anomaly. Coexisting Mullerian ducts anomalies and ovarian neoplasms are rarely reported.
Johara AlMulhim, MD +1 more
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A síndrome de Werner é uma doença autossômica recessiva rara associada a envelhecimento precoce, cujo quadro cutâneo deve ser distinguido daquele encontrado na esclerose sistêmica (ES).
Cristiane Kayser +3 more
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Rationale: Herlyn-Werner-Wunderlich syndrome, also known as obstructed hemi-vagina with ipsilateral renal agenesis (OHVIRA) syndrome, is a rare congenital anomaly of the Müllerian and Wolffian ducts.
Abiola Omobonike Adekoya +3 more
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WRN mutations in Werner Syndrome [PDF]
Werner syndrome (WS) is one of a group of human genetic diseases that have recently been linked to deficits in cellular helicase function. We review the spectrum of WS-associated WRN mutations, the organization and potential functions of the WRN protein, and potential mechanistic links between the loss of WRN function and pathogenesis of the WS ...
M J, Moser, J, Oshima, R J, Monnat
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An Unexpected Cause of Pelvic Pain in a Pubertal Case: Herlyn-Werner-Wunderlich Syndrome
Uterovaginal duplication with imperforated hemivagina is a rare type of Mullerian anomaly. If ipsilateral renal agenesis is associated with this complex genital malformation, it is called Herlyn-Werner-Wunderlich syndrome.
Yasemin Kayadibi +4 more
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Imaging Diagnosis of Herlyn-Werner-Wunderlich Syndrome- An Extremely Rare Urogenital Anomaly [PDF]
Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract resulting from maldevelopment of both Mullerian and Wolffian ducts.
SHIBANI MEHRA +4 more
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A 36-year-old male presented with young-onset diabetes and advanced peripheral vascular disease. He had a history of bilateral juvenile cataracts and premature aged appearance. Closer scrutiny unraveled multiple endocrine and nonendocrine abnormalities.
Ana Soraya Palmira Dos Remedios Monteiro +3 more
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Recurrent skin ulcer cross-repair and sensory reconstruction in a WRN gene mutational patient [PDF]
: A 37-year-old man complained of a refractory posterior malleolar ulceration on his left ankle. He was diagnosed with Werner syndrome according to the progeroid clinical features and genetic testing. To approach the ulceration, a free flow-through right
Jiqiang He +3 more
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